Affiliation: Istituto Nazionale Neurologico Carlo Besta
- Myoclonus-dystonia syndromeNardo Nardocci
Department of Child Neurology, Fondazione IRCCS Istituto Neurologico C Besta, Milan, Italy
Handb Clin Neurol 100:563-75. 2011....
- Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in ItalyFilippo Maria Santorelli
Department of Neurological, Neuropsychological, Morphological, Motor Sciences, University of Verona, Verona, Italy
Orphanet J Rare Dis 8:19. 2013..To review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the causative genes, and analyze possible genotype-phenotype relations...
- Axonal dystrophiesNardo Nardocci
Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy Electronic address
Handb Clin Neurol 113:1919-24. 2013..Atypical NAD refers to all patients who differ from the classical phenotype in term of age at onset and disease progression. Mutations in PLA2G6 gene are found both in classic and atypical INAD patients...
- Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiencyN Nardocci
Department of Child Neurology, Istituto Nazionale Neurologico Carlo Besta, Milan, Italy
Neurology 60:335-7. 2003..Treatment with L-dopa/carbidopa, started at age 1 year, was associated with sustained recovery from all neurologic signs. The patients were homozygous for a new recessive mutation in the GHI gene...
- Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 familiesNardo Nardocci
Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milano, Italy
Mov Disord 23:28-34. 2008..The disease course was variable, from progression to spontaneous remission of the motor symptoms. There were no obvious differences between mutation-positive and -negative cases...
- The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegenerationL Chiapparini
Department of Neuroradiology, IRCCS Neurological Institute Carlo Besta, Milano, Italy
Neuropediatrics 42:159-62. 2011..Our 2 cases demonstrate that the observation of a normal globus pallidus in the early stage of the disease does not exclude the diagnosis of classic PKAN...
- Polymyography in the diagnosis of childhood onset movement disordersC Canavese
UO Neuropsichiatria Infantile, Fondazione I R C C S Istituto Neurologico Carlo Besta, Milano, Italy
Eur J Paediatr Neurol 12:480-3. 2008..Aim of the study was to verify the contribution of polymyography in the classification of these movement disorders and in their aetiological definition...
- Persistent fixed torticollis due to Atlanto-axial rotatory fixation: report of 4 pediatric casesL Chiapparini
Department of Neuroradiology, National Neurological Institute C Besta, Milano, Italy
Neuropediatrics 36:45-9. 2005..AARF must be considered in all the patients with persistent painful torticollis...
- GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutationsB Garavaglia
Unità Operativa di Neurogenetica Molecolare, Istituto Nazionale Neurologico IRCCS Carlo Besta, via L Temolo 4, 20126 Milano, Italy
J Inherit Metab Dis 27:455-63. 2004..Complementation analysis in yeast is a useful tool for confirming the pathogenetic effect of GCH1 mutations...
- Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosisL Chiapparini
Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy
Neurol Sci 32:473-7. 2011..Bone marrow transplantation was performed. The early diagnosis of HLH may be life saving. Awareness of the disease is necessary to investigate its characteristic findings, thus avoiding a delay in diagnosis...
- EFNS guidelines on diagnosis and treatment of primary dystoniasA Albanese
Istituto Neurologico Carlo Besta, Milan, Italy Università Cattolica del Sacro Cuore, Milan, Italy
Eur J Neurol 18:5-18. 2011..to provide a revised version of earlier guidelines published in 2006...
- Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 casesS Franceschetti
Neurological Institute C Besta, Milan, Italy
Acta Neurol Scand 87:219-23. 1993..Molecular genetical investigation of mtDNA demonstrated the reported heteroplasmic point mutation at nt 8344 of mtDNA in the two MERRF patients, while it was negative in all of the others...
- Impaired body movement representation in DYT1 mutation carriersM Fiorio
Department of Neurological and Vision Sciences, Section of Rehabilitative Neurology, University of Verona, Via Casorati 43, 37131 Verona, Italy
Clin Neurophysiol 119:1864-9. 2008..Our aim was to investigate whether the DYT1 mutation impairs the inner simulation of movements, a fundamental function for motor planning and execution, which relies upon cortical and subcortical systems, dysfunctional in dystonia...
- Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosisN Cannelli
Molecular Medicine and Neurology, IRCCS Bambino Gesù Children s Hospital, Rome, Italy
Neuropediatrics 38:46-9. 2007..We report two sibs harbouring a novel mutation (p.Tyr258Asp) in the CLN5 gene and displaying behaviour disturbances and mental deterioration, rather than epilepsy, as the dominant disease manifestation at onset...
- Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13T D Taylor
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201, USA
Nat Genet 14:479-81. 1996..The HSS gene maps to an interval flanked by D20S906 and D20S116 on chromosome 20p12.3-p13. Linkage was confirmed in nine additional families of diverse ethnic backgrounds...
- Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphismC Kamm
Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Hoppe Seyler Str 3, 72086 Tübingen, Germany
Neurology 70:2261-2. 2008