Alexandra Durr

Summary

Country: France

Publications

  1. doi Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment
    Sophie Tezenas du Montcel
    AP HP, Department of Biostatistics and Medical Informatics, Pitié Salpêtrière Charles Foix Clinical Research Unit, University Pierre et Marie Curie, Paris, France
    Brain 131:1352-61. 2008
  2. pmc Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression
    Fanny Mochel
    INSERM, Hopital de la Salpetriere, UMR 679, Paris, France
    PLoS ONE 2:e647. 2007
  3. ncbi Friedreich's ataxia: treatment within reach
    Alexandra Durr
    INSERM U289 and Département de Génétique, cytogénétique et embryologie, Hopital de la Salpetriere, Paris, France
    Lancet Neurol 1:370-4. 2002
  4. doi Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia
    Sophie Tezenas du Montcel
    Department of Biostatistics and Medical Informatics, and Pitié Salpêtrière Charles Foix Clinical Research Unit, Hopital Pitie Salpetriere, 47 Boulevard de l Hopital, Paris, France
    Arch Neurol 69:500-8. 2012
  5. ncbi Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content
    Junko Takahashi
    Laboratoire de Neuropathologie Raymond Escourolle, Paris, France
    Brain 125:1534-43. 2002
  6. ncbi Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
    Giovanni Stevanin
    1INSERM, U679, Universite Pierre et Marie Curie Paris 6, UMR S679, Paris, France
    Brain 131:772-84. 2008
  7. doi A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations
    Ebba Lohmann
    INSERM, UMR_S679 Neurologie and Thérapeutique Expérimentale, F 75013 Paris, France
    Parkinsonism Relat Disord 15:273-6. 2009
  8. ncbi Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients
    Isabelle Le Ber
    Federation de Neurologie, hôpital Pitié Salpêtrière AP HP, Paris, France
    Brain 127:759-67. 2004
  9. doi Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion
    Paola S Denora
    INSERM, UMR_S679, Paris, France
    Hum Mutat 30:E500-19. 2009
  10. doi EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?
    Suzanne Lesage
    Universite Pierre et Marie Curie PARIS6, Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, UMR S975, INSERM, U975, CNRS, UMR 7225, Hopital de la Pitie Salpetriere, Paris, France
    Neurobiol Aging 33:2233.e1-2233.e5. 2012

Detail Information

Publications80

  1. doi Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment
    Sophie Tezenas du Montcel
    AP HP, Department of Biostatistics and Medical Informatics, Pitié Salpêtrière Charles Foix Clinical Research Unit, University Pierre et Marie Curie, Paris, France
    Brain 131:1352-61. 2008
    ....
  2. pmc Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression
    Fanny Mochel
    INSERM, Hopital de la Salpetriere, UMR 679, Paris, France
    PLoS ONE 2:e647. 2007
    ..The decreased plasma levels of BCAA may correspond to a critical need for Krebs cycle energy substrates in the brain that increased metabolism in the periphery is trying to provide...
  3. ncbi Friedreich's ataxia: treatment within reach
    Alexandra Durr
    INSERM U289 and Département de Génétique, cytogénétique et embryologie, Hopital de la Salpetriere, Paris, France
    Lancet Neurol 1:370-4. 2002
    ..In this review I discuss the clinical knowledge of FA and recent developments that have helped to elucidate the pathogenesis of the disease and made the first therapeutic attempts possible...
  4. doi Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia
    Sophie Tezenas du Montcel
    Department of Biostatistics and Medical Informatics, and Pitié Salpêtrière Charles Foix Clinical Research Unit, Hopital Pitie Salpetriere, 47 Boulevard de l Hopital, Paris, France
    Arch Neurol 69:500-8. 2012
    ..To evaluate disease progression and determine validity of clinical tools for therapeutic trials...
  5. ncbi Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content
    Junko Takahashi
    Laboratoire de Neuropathologie Raymond Escourolle, Paris, France
    Brain 125:1534-43. 2002
    ..CREB-binding protein (CBP), another component of NBs, was distributed like PML in NIIs. Our results suggest that NIIs are formed by the accumulation of ataxin-7 in NBs, which become enlarged as they recruit related proteins...
  6. ncbi Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
    Giovanni Stevanin
    1INSERM, U679, Universite Pierre et Marie Curie Paris 6, UMR S679, Paris, France
    Brain 131:772-84. 2008
    ..In conclusion, our study reveals the high frequency of SPG11 mutations in patients with HSP, a TCC and cognitive impairment, including in isolated patients, and extends the associated phenotype...
  7. doi A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations
    Ebba Lohmann
    INSERM, UMR_S679 Neurologie and Thérapeutique Expérimentale, F 75013 Paris, France
    Parkinsonism Relat Disord 15:273-6. 2009
    ..We were therefore unable to identify a presymptomatic marker of LRRK2-related PD...
  8. ncbi Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients
    Isabelle Le Ber
    Federation de Neurologie, hôpital Pitié Salpêtrière AP HP, Paris, France
    Brain 127:759-67. 2004
    ..In adults, AOA2 may be, therefore, the most frequent cause of ARCA identified so far, after Friedreich's ataxia...
  9. doi Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion
    Paola S Denora
    INSERM, UMR_S679, Paris, France
    Hum Mutat 30:E500-19. 2009
    ..While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing...
  10. doi EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?
    Suzanne Lesage
    Universite Pierre et Marie Curie PARIS6, Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, UMR S975, INSERM, U975, CNRS, UMR 7225, Hopital de la Pitie Salpetriere, Paris, France
    Neurobiol Aging 33:2233.e1-2233.e5. 2012
    ..G686C) and in a control subject (p.R1197W). These data do not support the pathogenicity of several EIF4G1 variants in PD, at least in the French population...
  11. doi Are parkin patients particularly suited for deep-brain stimulation?
    Ebba Lohmann
    INSERM, U679, Paris, France
    Mov Disord 23:740-3. 2008
    ..Twelve to 24 months after neurosurgery, the daily doses of levodopa equivalent were significantly lower in patients with two parkin mutations, indicating that these patients benefit from DBS, and they might have more durable results...
  12. ncbi Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3
    Stephan Klebe
    INSERM U679, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Brain 129:1456-62. 2006
    ..The phenotype of the linked family consists of spastic paraparesis and peripheral neuropathy associated with slight cerebellar signs confirmed by cerebellar atrophy on one CT scan...
  13. ncbi Mental deficiency in three families with SPG4 spastic paraplegia
    Pascale Ribai
    Department of Genetics and Cytogenetics, AP HP, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Eur J Hum Genet 16:97-104. 2008
    ..Arg499Cys substitutions in the SPG4 gene. Since two of these mutations were previously reported in families with a pure form of the disease, another genetic factor linked to SPG4 could be responsible for this complex phenotype...
  14. ncbi Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa
    Pablo Ibanez
    INSERM U679, Neurologie et Thérapeutique Expérimentale, CHU Pitie Salpetriere, Paris, France
    Brain 129:686-94. 2006
    ..These results suggest that PINK1 is the second most frequent causative gene in early-onset Parkinson's disease with a slowly progressive phenotype, indistinguishable from early-onset patients with parkin mutations...
  15. ncbi A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3
    Sylvain Hanein
    INSERM, Unit 679, 47 bd de l Hopital, 75013 Paris, France
    Hum Genet 122:261-73. 2007
    ..3-23.31, was found to segregate in all affected patients (but not in probably or possibly affected subjects) and in a high proportion of healthy at risk individuals, suggesting that this locus might act as a modifier of the phenotype...
  16. ncbi New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14
    Stephan Klebe
    Institut National de la Sante et de la Recherche Médicale U679 formerly U289 and Institut Fédératif de Recherche en Neurosciences, Paris, France
    Ann Neurol 58:720-9. 2005
    ..SCA14 represented only 1.5% (7/454) of French ADCA families but none of the German families. It should, however, be considered in patients with slowly progressive ADCA, particularly when myoclonus and cognitive impairment are present...
  17. ncbi Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease
    Suzanne Lesage
    INSERM, UMR 679, Neurology and Experimental Therapeutics, Hopital de la Pitie Salpetriere, AP HP, Faculte de Medecine, Universite Pierre et Marie Curie Paris 6, Paris, France
    Neurodegener Dis 4:195-8. 2007
    ..Mutations in the LRRK2 gene, the most frequent of which is the G2019S mutation in exon 41, cause familial and sporadic Parkinson's disease (PD) with reduced penetrance...
  18. doi Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms
    Pablo Ibanez
    Institut National de la Sante et de la Recherche Medicale INSERM, Unité Mixte de Recherche en Santé UMR _S679 Neurologie and Thérapeutique Expérimentale, F 75013, Paris, France
    Arch Neurol 66:102-8. 2009
    ..The aim of this study was to assess the frequency and phenotype of SNCA rearrangements in a large series of families with typical or atypical AD parkinsonism...
  19. ncbi PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases
    Junko Takahashi
    Laboratoire de Neuropathologie Raymond Escourolle, Hopital de la Salpetriere, AP HP, Paris, France
    Neurobiol Dis 13:230-7. 2003
    ..These data suggest that NIIs originate from nuclear bodies, where mutant proteins accumulate for degradation...
  20. doi Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias
    Ellis Chan
    Department of Biostatistics and Medical Informatics and Pitié Salpêtrière Charles Foix Clinical Research Unit, AP HP, Paris, France
    Mov Disord 26:534-8. 2011
    ..Responsive ataxia rating scales are essential for determining outcome measures in clinical trials...
  21. doi Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10
    Cyril Goizet
    INSERM, UMR_S679, Paris, France
    Hum Mutat 30:E376-85. 2009
    ..SPG10 mutations were found in 10% of our complicated forms of HSP, suggesting that mutations in KIF5A represent the major cause of complicated AD-HSP in France...
  22. ncbi Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families
    Nizar Elleuch
    INSERM, U679, Groupe Hospitalier Pitie Salpetriere, 47 bd de l Hopital, 75013 Paris, France
    Neurogenetics 8:307-15. 2007
    ..Our study highlights the phenotypic heterogeneity of SPG15 in which mental retardation or cognitive deterioration, but not all other signs of Kjellin syndrome, are associated with HSP and significantly reduces the SPG15 locus...
  23. doi Is non-recognition of choreic movements in Huntington disease always pathological?
    Damian Justo
    UPMC Univ Paris 06, UMR_S975, F 75013, Paris, France
    Neuropsychologia 51:748-59. 2013
    ..This tendency, combined with the paucity of functional consequences of incipient chorea, could explain the difficulty of its discovery by the patients...
  24. ncbi Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
    Giovanni Stevanin
    INSERM, UMR679, Federal Institute for Neuroscience Research, Pitie Salpetriere Hospital, Paris, France
    Nat Genet 39:366-72. 2007
    ..The identification of the function of the gene will provide insight into the mechanisms leading to the degeneration of the corticospinal tract and other brain structures in this frequent form of ARHSP...
  25. pmc KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations
    Stephan Klebe
    INSERM, U975, Paris, France
    Eur J Hum Genet 20:645-9. 2012
    ..In published families, the nature of the KIF1A mutations seems to be of good predictor of the underlying phenotype and vice versa...
  26. ncbi A new phenotype linked to SPG27 and refinement of the critical region on chromosome
    Pascale Ribai
    INSERM U679 former U289, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75013 Paris, France
    J Neurol 253:714-9. 2006
    ..6 cM. This is the first clinical description of a complicated form of spastic paraplegia, characterized by great phenotypic variability among the sibs, associated with the SPG27 locus...
  27. ncbi Gene symbol: PARK2. Disease: Parkinsonism, juvenile, autosomal recessive
    Suzanne Lesage
    INSERM, U679, Boulevard de l Hopital, 47, 75013 Paris, France
    Hum Genet 123:114. 2008
  28. doi The PSP-associated MAPT H1 subhaplotype in Guadeloupean atypical parkinsonism
    Agnes Camuzat
    INSERM, UMR_S 679, Neurology and Experimental Therapeutics, Paris, France
    Mov Disord 23:2384-91. 2008
    ..The major H1 subhaplotype in Guadeloupe, determined by analysis of linkage desequibrium, differed from the major Caucasian subhaplotype, but corresponded to minor alleles previously described...
  29. ncbi Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease
    Christoph Burkhard Lucking
    Institut National de la Sante et de la Recherche Medicale, Unit 289, Hopital de la Salpetriere, Assistance Publique Hopitaux de Paris, France
    Arch Neurol 60:1253-6. 2003
    ..The role of polymorphisms in the parkin gene as risk factors for PD is still unclear, as the results in the literature are contradictory...
  30. doi Annual change in Friedreich's ataxia evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is independent of disease severity
    Cecilia Marelli
    Universite Pierre et Marie Curie PARIS6, Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, UMR S975, Paris, France
    Mov Disord 27:135-8. 2012
    ..The objective of the study was to evaluate the sensitivity to change of the Scale for the Assessment and Rating of Ataxia (score, 0-40) in Friedreich's ataxia...
  31. doi Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans
    Suzanne Lesage
    INSERM, UMR_S975 Formerly UMR_S679, Paris, France
    Hum Mol Genet 19:1998-2004. 2010
    ....
  32. ncbi Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up
    Pascale Ribai
    Department of Genetics, Salpêtrière Medical School, Pierre and Marie Curie University, Paris, France
    Arch Neurol 64:558-64. 2007
    ..Friedreich ataxia (FA) is the most frequent autosomal recessive cerebellar ataxia. Although the phenotype is well known, disease progression has not been evaluated in a prospective manner...
  33. ncbi Hereditary spastic paraplegias: an update
    Christel Depienne
    INSERM, U679, Paris, France
    Curr Opin Neurol 20:674-80. 2007
    ..Cerebral MRI and the familial history of each patient with spastic paraplegia are the minimal clinical elements needed to orient genetic testing...
  34. doi PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population
    Aurélie Méneret
    INSERM, UMRS 975, Hopital Pitie Salpetriere, Paris, France
    Neurology 79:170-4. 2012
    ..Mutations in the PRRT2 gene were recently identified in patients with PKD and ICCA. We studied the prevalence of PRRT2 mutations and characteristics of the patients in a European population of patients with PKD and ICCA...
  35. doi Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene
    Domitille Gras
    AP HP, Service de Neuropediatrie, Hopital Trousseau, Paris, France
    J Neurol Neurosurg Psychiatry 83:956-62. 2012
    ..The aim of the study was to refine the movement disorders phenotype. We also studied disease course and response to therapy in a large series of genetically proven patients...
  36. doi Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease
    Suzanne Lesage
    Universite Pierre et Marie Curie Paris 6, Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, UMR S975, and Department of Genetics and Cytogenetics, Pitie Salpetriere Hospital, Paris, France
    Hum Mol Genet 20:202-10. 2011
    ..These genotype and clinical analyses on the largest homogeneous sample of European patients studied to date confirmed that GBA mutations are the most common genetic risk factor for PD, particularly in familial forms...
  37. ncbi Spinocerebellar ataxia with mental retardation (SCA13)
    Giovanni Stevanin
    INSERM U679 former U289, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Cerebellum 4:43-6. 2005
    ..The responsible gene has been assigned to a 5.2 Mbases interval on chromosome 19q in a single French family...
  38. ncbi Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism
    Suzanne Lesage
    INSERM U679, Neurology and Experimental Therapeutics, Centre Hospitalier Universitaire CHU Pitié Salpêtrière, Assistance Publique Hopitaux de Paris AP HP, Paris, France
    Hum Mutat 28:27-32. 2007
    ..1-?_7+?del mutation. The phenotypes of patients with promoter deletions and consequently absence of parkin and possibly PACRG expression, were similar to and no more severe than those of other EOPD patients with parkin mutations...
  39. pmc Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy
    Stephan Klebe
    INSERM, UMR_S975 CRICM, F 75013 Paris, France
    Brain 135:2980-93. 2012
    ..Altogether, these results emphasize the clinical variability associated with SPG7 mutations, ranging from optic neuropathy to spastic paraplegia, and support the view that SPG7 screening should be carried out in both conditions...
  40. pmc Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
    Sophie Tezenas du Montcel
    1 Sorbonne Universités, Universite Pierre et Marie Curie UPMC Univ Paris 06, UMR_S 1136, Institut Pierre Louis d Epidémiologie et de Santé Publique, F 75013, Paris, France2 Inserm, UMR_S 1136, Institut Pierre Louis d Epidémiologie et de Santé Publique, F 75013, Paris, France3 AP HP, Groupe Hospitalier Pitie Salpetriere, Biostatistics Unit, Paris, F 75013, France
    Brain 137:2444-55. 2014
    ..As the variability in age at onset is not completely explained by the effects of the causative and modifier sister genes, other genetic or environmental factors must also play a role in these diseases...
  41. doi Abnormal response to cortical activation in early stages of Huntington disease
    Fanny Mochel
    Inserm UMR S975, Institut du Cerveau et de la Moelle, Hopital La Salpetriere, Paris, France
    Mov Disord 27:907-10. 2012
    ..We wished to identify noninvasive in vivo biomarkers of brain energy deficit in Huntington disease...
  42. ncbi Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia
    Alexandra Durr
    Département de génétique, cytogénétique et embryologie, and INSERM U289, Hôpital Salpêtrière AP HP, Paris, France
    Arch Neurol 61:1867-72. 2004
    ..The atlastin1 gene has recently been implicated in SPG3A, a form of autosomal dominant pure spastic paraplegia. Atlastin1 mutations have been identified in 8 families so far...
  43. ncbi Spinocerebellar ataxia with sensory neuropathy (SCA25)
    Giovanni Stevanin
    INSERM U679 former U289, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Cerebellum 4:58-61. 2005
    ..Clinical variability ranges from incomplete penetrance at age 61 to a Friedreich ataxia-like syndrome. The responsible locus was mapped to chromosome 2p in a large region of 14 Mbases in a single French kindred...
  44. ncbi Spinocerebellar ataxias caused by polyglutamine expansions
    Giovanni Stevanin
    INSERM U289, Institut Fédératif di Recherche des Neurosciences, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Adv Exp Med Biol 516:47-77. 2002
  45. ncbi Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)
    Naima Bouslam
    INSERM U679 former U289, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Ann Neurol 57:567-71. 2005
    ..No mutations were found in exons of GCH1 and SPG3A, two genes from the candidate region involved in movement disorders...
  46. doi Follow-up study of the GIGYF2 gene in French families with Parkinson's disease
    Suzanne Lesage
    INSERM, UMR_S975 Formerly UMR_S679, Hopital de la Salpetriere, Paris, France
    Neurobiol Aging 31:1069-71; discussion 1072-4. 2010
    ..Together, these results do not support a major role of GIGYF2 in PD...
  47. doi Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach
    Louise Laure Mariani
    Assistance Publique Hopitaux de Paris, Pitie Salpetriere University Hospital, Department of Genetics, Paris, France2Assistance Publique Hôpitaux de Paris, Pitie Salpetriere University Hospital, Department of Neurology, Paris, France
    JAMA Neurol 73:1105-14. 2016
    ..However, not all patients with an HD phenotype carry the pathological expansion in HTT, and the positive diagnosis rate is poor...
  48. pmc Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression
    Cyril Mignot
    Department of Genetics and Cytogenetics, AP HP, Hopital de la Salpetriere, Paris, F 75013, France
    Orphanet J Rare Dis 8:173. 2013
    ..e. low ubiquinone level or functional evidence of ubiquinone deficiency. This diagnosis is crucial since the neurological status of some patients may be improved by ubiquinone therapy...
  49. doi A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease
    Claire Marie Dhaenens
    INSERM, U837, Universite Lille Nord de France, USDL, IMPRT, Jean Pierre Aubert Research Centre, Lille, France
    Neurobiol Dis 35:474-6. 2009
    ..Patients harbouring T/T genotype have an earlier AAO of 3.8 years as compared to C/C genotype (p=0.02). Our data thus strengthens the pathophysiological role of A(2A) receptors in Huntington's disease...
  50. ncbi Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions
    Danielle Seilhean
    Laboratoire de Neuropathologie Raymond Escourolle, INSERM U360, Association Claude Bernard, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75651, Paris Cedex 13, France
    Acta Neuropathol 108:81-7. 2004
    ..At the ultrastructural level, the nuclear inclusions were made of straight filaments (10-12 nm in diameter) arranged at random, reminiscent of the polyglutamine intranuclear hyaline inclusions...
  51. pmc Effectiveness of anti-psychotics and related drugs in the Huntington French-speaking group cohort
    Gaelle Desamericq
    Equipe 01, U955, INSERM, Creteil, France Faculté de Médecine, Universite Paris Est, Creteil, France Service de Pharmacologie Clinique, Hôpital H Mondor A Chenevier, AP HP, Creteil, France Département d Etudes Cognitives, Ecole Normale Superieure, Paris, France
    PLoS ONE 9:e85430. 2014
    ..The evidence of their effect on disease progression is limited and no comparative study between these drugs has been conducted. We therefore compared the effectiveness of antipsychotics on disease progression...
  52. doi Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia
    Fabienne Clot
    AP HP, Département de génétique et cytogénétique, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Brain 132:1753-63. 2009
    ..Although the yield of mutations exceeds 80% in pure Dopa-responsive dystonia and Dopa-responsive dystonia-plus syndromes groups, the genes involved are clearly different: GCH1 in the former and TH and SPR in the later...
  53. doi A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia
    Francoise Pousset
    Department of Cardiology, Assistance Publique Hopitaux de Paris, Groupe hospitalier Pitié Salpêtrière Charles Foix, Paris, France
    JAMA Neurol 72:1334-41. 2015
    ..Friedreich ataxia (FRDA) is the most common genetic sensory ataxia, and myocardial involvement is a major determinant of survival...
  54. doi Nocturnal agitation in Huntington disease is caused by arousal-related abnormal movements rather than by rapid eye movement sleep behavior disorder
    Dulce Neutel
    APHP, Sleep Disorder Unit, Pitie Salpetriere University Hospital, Paris, France
    Sleep Med 16:754-9. 2015
    ..Patients with Huntington disease (HD) and their spouses often complain of agitation during sleep, but the causes are mostly unknown...
  55. pmc In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7
    Isaac M Adanyeguh
    Inserm U 1127, Sorbonne Universités, UPMC Univ Paris Institut du Cerveau et de la Moelle épinière, ICM, Paris, France
    Mov Disord 30:662-70. 2015
    ..Because these biomarkers reflect dynamic aspects of cellular metabolism, they are good candidates for proof-of-concept therapeutic trials. © 2015 International Parkinson and Movement Disorder Society...
  56. pmc Triheptanoin improves brain energy metabolism in patients with Huntington disease
    Isaac Mawusi Adanyeguh
    From Inserm U 1127 I M A, D R, R V, A D, F M, CNRS UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, institut du cerveau et de la moelle épinière, ICM, Paris, France Center for Magnetic Resonance Research P G H, University of Minnesota, Minneapolis Departments of Dietetics S C and Genetics A D, F M, AP HP, Pitie Salpetriere University Hospital, Paris and Center for NeuroImaging Research R V, institut du cerveau et de la moelle épinière, Paris, France
    Neurology 84:490-5. 2015
    ....
  57. ncbi Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations
    Michael Schüpbach
    centre d investigation clinique, Hopital de la Pitie Salpetriere, AP HP, Paris, France
    Mov Disord 22:119-22. 2007
    ..Two patients with the G2019S LRRK2 mutation still benefited from STN stimulation, 9 and 10 years after surgery. Patients with LRRK2 mutations are, therefore, good candidates for STN stimulation...
  58. ncbi Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14
    Giovanni Stevanin
    INSERM U289, Institut Fédératif de Recherche en Neuroscience, Assistance Publique Hopitaux de Paris, Hôpital de al Salpêtrière, Paris, France
    Arch Neurol 61:1242-8. 2004
    ....
  59. pmc Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia
    Elodie Martin
    Unité Mixte de Recherche S975, Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, Pitie Salpetriere Hospital, Universite Pierre et Marie Curie Paris 6, Paris, France
    Am J Hum Genet 92:238-44. 2013
    ..This study highlights the role of ceramide metabolism in HSP pathology...
  60. doi Restless legs syndrome, rapid eye movement sleep behavior disorder, and hypersomnia in patients with two parkin mutations
    Nadege Limousin
    Unité des Pathologies du sommeil and UMR 975, Universite Paris 6, Hopital Pitie Salpetriere, Assistance Publique Hôpitaux de, Paris, France
    Mov Disord 24:1970-6. 2009
    ....
  61. doi Spinocerebellar ataxia 13 and 25
    Giovanni Stevanin
    Universite Pierre et Marie Curie Paris 6, Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, UMR S975, Paris, France
    Handb Clin Neurol 103:549-53. 2012
    ..While the gene responsible for SCA25 is still unknown, missense mutations affecting the potassium channel KCNC3 function have been identified...
  62. ncbi Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p
    Giovanni Stevanin
    INSERM U289, Federative Institute for Neuroscience Research IFR 70, Paris
    Ann Neurol 55:97-104. 2004
    ..The gene responsible for SCA25 remains to be identified...
  63. ncbi Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity
    Giovanni Stevanin
    INSERM U679, Salpetriere Hospital, 47 Boulevard de l Hopital, 75013 Paris, France
    Neurogenetics 7:149-56. 2006
    ..Our findings suggest that ARHSP-TCC is the most frequent form of ARHSP in Mediterranean countries and that it is particularly frequent in Italy...
  64. ncbi Gene symbol: PARK2. Disease: Parkinsonism, juvenile, autosomal recessive
    Suzanne Lesage
    INSERM, U679, Boulevard de l Hopital, 47, 75013 Paris
    Hum Genet 123:114. 2008
  65. doi Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation
    Rodolphe Dard
    Department of Genetics, AP HP, La Pitie Salpetriere University Hospital, Paris, France
    Dev Med Child Neurol 57:1183-6. 2015
    ..Rather than multiple overlapping syndromes, ATP1A3-related disorders might be seen as a phenotypic continuum. ..
  66. pmc Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6
    Sophie Tezenas du Montcel
    UPMC Univ Paris 06, ER4, Modelling in Clinical Research, Paris, France Department of Biostatistics and Medical Informatics, AP HP, Hôpitaux Universitaires Pitié Salpêtrière Charles Foix, Paris, France
    J Med Genet 51:479-86. 2014
    ..While the number of repeats of the coding (CAG)n expansions is correlated with the age at onset, there are no appropriate models that include both affected and preclinical carriers allowing for the prediction of age at onset...
  67. ncbi Subtle cognitive impairment but no dementia in patients with spastin mutations
    Chantal M E Tallaksen
    Institut National de la Santé et de la Recherche Médicale Unit 289, Federation de Neurologie, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75013 Paris, France
    Arch Neurol 60:1113-8. 2003
    ..Mutations of the SPG4 gene have been increasingly associated with reports of cognitive impairment...
  68. pmc Neuroendocrine disturbances in Huntington's disease
    Nadine Saleh
    Centre de référence maladie de Huntington, AP HP, Groupe Henri Mondor Albert Chenevier Pitié Salpétrière, Creteil, Paris, France
    PLoS ONE 4:e4962. 2009
    ..Only GH was independently associated with body mass index (beta = -0.26, p = 0.001)...
  69. ncbi Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies
    Isabelle Le Ber
    Federation de Neurologie, Hôpital de la Salpêtrière AP HP, Paris, France
    Brain 126:2761-72. 2003
    ..The frequency of chorea at onset suggests that this diagnosis should also be considered in children with chorea who do not carry the IT15 mutation responsible for Huntington's disease...
  70. pmc Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease
    Fanny Mochel
    INSERM UPMC NEB, UMR S975, Centre de Recherche Institut du Cerveau et de la Moelle, Paris, France
    Eur J Hum Genet 18:1057-60. 2010
    ..A significant increase in serum IGF1 was also observed in all patients (205+/-60 ng/ml versus 246+/-68 ng/ml, P=0.010). This study provides a rationale for extending our anaplerotic approach with triheptanoin in HD...
  71. doi The structural correlates of functional deficits in early huntington's disease
    Christine Delmaire
    Center for Neuroimaging Research, Groupe Hospitalier Pitie Salpetriere, 47 boulevardde l Hôpital, Paris Cedex 13, France
    Hum Brain Mapp 34:2141-53. 2013
    ..In conclusion, disruption of motor, associative and limbic cortico-striatal circuits differentially contribute to the clinical signs of the disease...
  72. pmc The Huntington disease protein accelerates breast tumour development and metastasis through ErbB2/HER2 signalling
    Cristovão Moreira Sousa
    Institut Curie, Paris, France CNRS UMR 3306, Orsay, France
    EMBO Mol Med 5:309-25. 2013
    ..This leads to its accumulation and to subsequent increases in cell motility and proliferation. Our study may thus have important implications for both cancer and HD...
  73. doi Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond
    Alexandra Durr
    Université Pierre et Marie Curie Paris, Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, UMR S975, Paris, France
    Lancet Neurol 9:885-94. 2010
    ..The diversity of underlying mechanisms that give rise to the dominant cerebellar ataxias need to be taken into account to identify therapeutic targets...
  74. pmc Altered dopamine and serotonin metabolism in motorically asymptomatic R6/2 mice
    Fanny Mochel
    Inserm UMR S975, Institut du Cerveau et de la Moelle, Hopital de la Salpetriere, and Universite Pierre et Marie Curie, Paris, France
    PLoS ONE 6:e18336. 2011
    ..Therefore, we describe the earliest alterations of DA and serotonin metabolism in a HD murine model. Our findings likely underpin the neuropsychological symptoms at time of disease onset in HD...
  75. doi FXTAS: new insights and the need for revised diagnostic criteria
    Emmanuelle Apartis
    AP HP, Paris, France
    Neurology 79:1898-907. 2012
    ..We delineate the clinical, neurophysiologic, and morphologic characteristics of FXTAS...
  76. ncbi How much phenotypic variation can be attributed to parkin genotype?
    Ebba Lohmann
    INSERM U289, Hopital de la Salpetriere, Paris, France
    Ann Neurol 54:176-85. 2003
    ..Patients with a single heterozygous mutation had significantly later and more asymmetrical onset and more frequent levodopa-induced fluctuations and dystonia than patients with two mutations...
  77. pmc Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings
    Fanny Mochel
    French Institute of Health and Medical Research, UMR S975, Paris, Frane
    Ann Neurol 72:433-41. 2012
    ..To improve clinical diagnosis and enable future evaluation of therapeutic strategies, we conducted a multinational study of the natural history and imaging features of APBD...
  78. ncbi Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes
    Giovanni Stevanin
    INSERM U289, Hopital de la Salpetriere, 47 bd de l Hopital, 75013 Paris, France
    Brain 126:1599-603. 2003
    ..Expansions in the DRPLA gene and insertions in the PRNP gene were not found in our group of patients. Further genetic heterogeneity of the HDL phenotype therefore exists...
  79. ncbi [Predictive testing: presymptomatic diagnosis in neurogenetic disorders]
    Alexandra Durr
    Consultation de génétique, Département de génétique, cytogénétique et embryologie, Groupe Hospitalier Pitie Salpetriere, 47 83, Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Med Sci (Paris) 21:934-9. 2005
    ..Nevertheless, the overall situation might change greatly when efficient treatments will become available in these disorders...
  80. ncbi Parkin mutations are frequent in patients with isolated early-onset parkinsonism
    Magali Periquet
    INSERM U289, Hopital de la Salpetriere, Paris, France
    Brain 126:1271-8. 2003
    ..However, a single case presenting with cerebellar ataxia several years before typical parkinsonism extends the spectrum of parkin related-disease...