Alessandro Malandrini

Summary

Affiliation: University of Siena
Country: Italy

Publications

  1. ncbi request reprint Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype
    A Malandrini
    Department of Neurological and Behavioural Sciences, University of Siena, 53100 Siena, Italy
    Neurology 65:776. 2005
  2. ncbi request reprint A syndrome of bilateral hemorrhage of the thalamus and myocarditis with fatal course
    A Malandrini
    Department of Neurological and Behavioural Sciences, Neuroscience Section, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    J Clin Forensic Med 11:208-10. 2004
  3. ncbi request reprint Diagnostic value of ultrastructural skin biopsy studies in CADASIL
    A Malandrini
    Department of Neurological and Behavioral Sciences, University of Siena, Siena, Italy
    Neurology 68:1430-2. 2007
  4. ncbi request reprint Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis
    Alessandro Malandrini
    Unit of Neurometabolic Disease, Department of Neurological and Behavioural Sciences, University of Siena, Italy
    Brain Dev 30:291-4. 2008
  5. ncbi request reprint Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL
    A Malandrini
    Istituto Scienze Neurologiche, Universita di Siena, Italy
    Neurology 59:617-20. 2002
  6. doi request reprint Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia
    Alessandro Malandrini
    Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    Anesthesiology 109:625-8. 2008
  7. ncbi request reprint Ultrastructural findings in the peripheral nerve in a family with the intermediate form of Charcot-Marie-Tooth disease
    A Malandrini
    Institute of Neurological Sciences, University of Siena, Italy
    J Submicrosc Cytol Pathol 33:59-63. 2001
  8. ncbi request reprint Neuropathological findings associated with retained lead shot pellets in a man surviving two months after a suicide attempt
    A Malandrini
    Institute of Neurological Sciences, University of Siena, Italy
    J Forensic Sci 46:717-21. 2001
  9. ncbi request reprint Autonomic nervous system and smooth muscle cell involvement in systemic sclerosis: ultrastructural study of 3 cases
    A Malandrini
    Institute of Neurological Sciences, University of Siena, Italy
    J Rheumatol 27:1203-6. 2000
  10. doi request reprint A second MNGIE patient without typical mitochondrial skeletal muscle involvement
    Elena Cardaioli
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy
    Neurol Sci 31:491-4. 2010

Detail Information

Publications55

  1. ncbi request reprint Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype
    A Malandrini
    Department of Neurological and Behavioural Sciences, University of Siena, 53100 Siena, Italy
    Neurology 65:776. 2005
  2. ncbi request reprint A syndrome of bilateral hemorrhage of the thalamus and myocarditis with fatal course
    A Malandrini
    Department of Neurological and Behavioural Sciences, Neuroscience Section, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    J Clin Forensic Med 11:208-10. 2004
    ..We hypothesize an infective agent, affecting the heart and thalamus, as the cause of this syndrome. Diaschisis due to the strategic anatomical position of the thalamus may have been responsible for coma state and death...
  3. ncbi request reprint Diagnostic value of ultrastructural skin biopsy studies in CADASIL
    A Malandrini
    Department of Neurological and Behavioral Sciences, University of Siena, Siena, Italy
    Neurology 68:1430-2. 2007
  4. ncbi request reprint Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis
    Alessandro Malandrini
    Unit of Neurometabolic Disease, Department of Neurological and Behavioural Sciences, University of Siena, Italy
    Brain Dev 30:291-4. 2008
    ....
  5. ncbi request reprint Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL
    A Malandrini
    Istituto Scienze Neurologiche, Universita di Siena, Italy
    Neurology 59:617-20. 2002
    ..In the current cases, the relation between molecular genetic lesion and muscle fiber abnormalities remains to be determined, but the Notch3 gene may influence mitochondrial metabolism...
  6. doi request reprint Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia
    Alessandro Malandrini
    Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    Anesthesiology 109:625-8. 2008
    ..In most cases, pathogenesis is unknown and clinical management is unclear. Though clinically asymptomatic, these subjects are potentially susceptible to malignant hyperthermia...
  7. ncbi request reprint Ultrastructural findings in the peripheral nerve in a family with the intermediate form of Charcot-Marie-Tooth disease
    A Malandrini
    Institute of Neurological Sciences, University of Siena, Italy
    J Submicrosc Cytol Pathol 33:59-63. 2001
    ..The presence of both demyelinating and axonal findings, not found in other genetically determined types of CMT disease, confirms the hypothesis of a new nosographic entity of intermediate type...
  8. ncbi request reprint Neuropathological findings associated with retained lead shot pellets in a man surviving two months after a suicide attempt
    A Malandrini
    Institute of Neurological Sciences, University of Siena, Italy
    J Forensic Sci 46:717-21. 2001
    ..These data indicated that an important local reaction developed at the sites of lead shot retention, and mild signs of diffuse axonal damage were found throughout the brain...
  9. ncbi request reprint Autonomic nervous system and smooth muscle cell involvement in systemic sclerosis: ultrastructural study of 3 cases
    A Malandrini
    Institute of Neurological Sciences, University of Siena, Italy
    J Rheumatol 27:1203-6. 2000
    ..To investigate morphological abnormalities in nerve and smooth muscle structures of the anorectal wall underlying gastrointestinal dysfunction in patients with systemic sclerosis (SSc)...
  10. doi request reprint A second MNGIE patient without typical mitochondrial skeletal muscle involvement
    Elena Cardaioli
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy
    Neurol Sci 31:491-4. 2010
    ..215-1 G>C) has been reported. Here, we describe an Italian patient with the same mutation and without mitochondrial skeletal muscle involvement, suggesting a possible genotype-phenotype correlation...
  11. ncbi request reprint Peripheral neuropathy in CADASIL
    Francesco Sicurelli
    Dept of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    J Neurol 252:1206-9. 2005
    ..The clinical phenotype is characterized by cerebral impairment even though typical microvascular changes are diffuse...
  12. pmc A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency
    Paola Da Pozzo
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Italy
    Eur J Hum Genet 17:1092-6. 2009
    ..The result highlights the importance of molecular dissection of mtDNA in patients with defined mt disorder and confirms the clinical and biochemical heterogeneity associated with tRNA(Pro) mutations...
  13. doi request reprint Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation
    Elena Cardaioli
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy
    J Neurol Sci 321:92-5. 2012
    ..The mutation T8306C is predicted to disrupt a highly conserved base pair and was not found in more than 120 controls. This finding broadens the phenotypic and molecular spectrum of mitochondrial tRNA(Lys) associated disorders...
  14. doi request reprint The first Italian patient with oculopharyngodistal myopathy: case report and considerations on differential diagnosis
    Andrea Mignarri
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Italy
    Neuromuscul Disord 22:759-62. 2012
    ..This is the first Italian case of oculopharyngodistal myopathy, further suggesting the worldwide distribution of this rare neuromuscular disorder...
  15. ncbi request reprint A new missense mutation in caveolin-3 gene causes rippling muscle disease
    M Teresa Dotti
    Department of Neurological and Behavioral Sciences, University of Siena, Italy
    J Neurol Sci 243:61-4. 2006
    ..We report a new Italian family with autosomal dominant rippling muscle disease. Immunocytochemical analysis of muscle showed a deficit of caveolin-3 protein and molecular genetic analysis showed a novel mutation of the Cav-3 gene...
  16. ncbi request reprint Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene
    Elena Cardaioli
    Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    Neuromuscul Disord 16:26-31. 2006
    ....
  17. doi request reprint A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features
    Edoardo Malfatti
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy
    J Neurol Sci 297:105-8. 2010
    ..Mitochondrial diseases due to mitochondrial tRNA genes mutations are usually multisystem disorders with infantile or adult onset...
  18. ncbi request reprint A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss
    Elena Cardaioli
    Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, Siena 53100, Italy
    Neuromuscul Disord 17:681-3. 2007
    ..Several point mutations on mitochondrial tRNA genes have been reported in PEO patients without large-scale rearrangements of mtDNA but no point mutations have hitherto been found in the gene coding for tRNA(Ser(UCN))...
  19. doi request reprint Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28
    Andrea Mignarri
    Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Italy
    J Neurol Sci 362:287-91. 2016
    ..Qualitative alterations of mtDNA could have a pathogenetic significance. We suggest to perform DDHD1 analysis in patients with multiple mtDNA deletions. ..
  20. doi request reprint Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?
    Paola Da Pozzo
    Department of Medicine, Surgery and Neuroscience, University of Siena, Viale Bracci 2, 53100, Siena, Italy
    Neurol Sci 36:1713-5. 2015
    ..Finally, this study expands the spectrum of POLG mutations and highlights the need to sequence the whole set of nuclear genes associated with PEO and multiple mtDNA deletions...
  21. doi request reprint The first Italian family with tibial muscular dystrophy caused by a novel titin mutation
    Marzia Pollazzon
    Medical Genetics, Department Molecular Biology, University of Siena, Policlinico Le Scotte, Viale Bracci 2, 53100, Siena, Italy
    J Neurol 257:575-9. 2010
    ..No other disease causing mutations in the TTN gene have so far been reported in the Italian population...
  22. ncbi request reprint A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL
    Maria Teresa Dotti
    Unit of Neurology and Neurometabolic Diseases, Department of Neurological and Behavioral Sciences, University of Siena, Italy
    Arch Neurol 61:942-5. 2004
    ..These mutations result in a gain or a loss of 1 (or, rarely, 3) cysteine residue in 1 of 34 epidermal growth factor-like repeats in the extracellular amino-terminal region of NOTCH3...
  23. ncbi request reprint Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy
    S Gambelli
    Department of Neurological and Behavioral Sciences, University of Siena, Siena, Italy
    Eur Neurol 51:144-7. 2004
    ..We hypothesize that mitochondrial abnormalities may be a secondary phenomenon. This observation may suggest that the PABP2 gene could interfere in the posttranscriptional regulation of genes involved in mitochondrial function...
  24. doi request reprint A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia
    Anna Rubegni
    Dept of Medical, Surgical and Neurological Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    J Neurol Sci 338:232-4. 2014
    ..The use of UEC as the tissue of choice in the noninvasive diagnosis of the 3243A>G mutation offers a very attractive alternative to muscle biopsy. Finally, our data expand the clinical spectrum of the 3243A>G mutation...
  25. doi request reprint Clinical course of two italian siblings with ataxia-telangiectasia-like disorder
    Silvia Palmeri
    Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School University of Siena, Siena, Italy
    Cerebellum 12:596-9. 2013
    ..The long follow-up provided insights into clinical outcome, with functional neuroimaging studies shedding light on the pathogenetic mechanisms of this rare disease. ..
  26. doi request reprint Homozygosity and severity of phenotypic presentation in a CADASIL family
    Claudia Vinciguerra
    Department of Medicine, Surgery and Neurosciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy
    Neurol Sci 35:91-3. 2014
    ..We discuss these findings in relationship to previous data from the literature in CADASIL and in other dominant neurological disorders...
  27. doi request reprint Transient periodic lateralised epileptiform discharges (PLEDs) following internal carotid artery stenting
    Daniela Marino
    Department of Neurological, Behavioural and Neurosurgical Sciences, Section of Neurological Sciences, University of Siena, Italy
    Epileptic Disord 14:85-9. 2012
    ..Conclusion. In this patient, PLEDs may have been triggered by local haemodynamic changes due to reperfusion after stenting in a previously damaged brain area...
  28. ncbi request reprint A case of dystonia with onset during pregnancy
    Rosaria Buccoliero
    Department of Neurological and Behavioural Sciences, University of Siena, Italy
    J Neurol Sci 260:265-6. 2007
    ..She was treated with clonazepam, 0.5 mg three times a day, during the pregnancy. After delivery of a healthy full-term child by caesarean section, she was completely able to turn her neck to either side...
  29. ncbi request reprint Antibodies to dorsal root ganglia and olfactory cells in a patient with chronic sensory neuropathy and anosmia
    Simona Gambelli
    Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    J Neurol Sci 221:105-8. 2004
    ..Clinical and laboratory data suggested a slow autoimmune process affecting dorsal root ganglion and olfactory cells...
  30. ncbi request reprint Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study
    A Federico
    Unit of Neurometabolic Diseases, Institute of Neurological Sciences, University of Siena, Italy
    J Submicrosc Cytol Pathol 30:521-6. 1998
    ..The association in the same patient of the two inherited diseases is merely casual and does not seem to influence the phenotypic expression of the two diseases...
  31. ncbi request reprint Ultrastructural study of enteric ganglia in three patients with Rett syndrome
    A Malandrini
    Istituto di Scienze Neurologiche, Universita di Siena, Italy
    Brain Dev 20:586-8. 1998
    ..Sometimes, the axon terminals were swollen and showed intraxonal vacuolization. We conclude that the reported findings do not represent a specific sign of degeneration and do not constitute a significant morphological marker of disease...
  32. ncbi request reprint Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism
    S Palmeri
    Neurological Sciences Institute and Medical Genetics, University of Siena, Siena, Italy
    Clin Genet 63:510-5. 2003
    ..Surprisingly, we found the mutation, as a mosaic, in the asymptomatic maternal grandmother. This expands the clinical spectrum of EDS type IV and confirms that in some families mosaicism can be identified as the source of the mutation...
  33. ncbi request reprint Neuronal intranuclear inclusion disease: neuropathologic study of a case
    A Malandrini
    Institute of Neurological Sciences, University of Siena, Italy
    Brain Dev 20:290-4. 1998
    ..Intranuclear inclusions were found in many morphologically normal neurons. We suggest that the intranuclear inclusions are the marker of a distinctive disorder, even though their role in neuronal degeneration remains to be clarified...
  34. ncbi request reprint Type I sialidosis: a clinical, biochemical and neuroradiological study
    S Palmeri
    Institute of Neurological Sciences, University of Siena, Italy
    Eur Neurol 43:88-94. 2000
    ..We emphasize the prolonged course of illness in this patient, observed over a long period of time. Of particular interest is the neuroradiological study showing our findings both at the beginning of the disease and after 20 years...
  35. ncbi request reprint Localization of laminin alpha 2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study
    M Villanova
    Laboratory of Neuropathology, Institute of Neurological Sciences, University of Siena, Italy
    Acta Neuropathol 94:567-71. 1997
    ..Further studies should be performed on patients affected by congenital muscular dystrophy associated with laminin alpha 2 deficiency to test this hypothesis...
  36. ncbi request reprint Palpebral ptosis and muscle fatiguability associated with perineurial cell ensheathment of muscle fibers: a new disease of the neuromuscular junction?
    A Federico
    Institute of Neurological Science, University of Siena, Italy
    J Neurol Sci 149:147-50. 1997
    ....
  37. ncbi request reprint Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia
    R Zannolli
    Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
    Am J Med Genet A 127:212-6. 2004
    ..The ectodermal defects were present in a very intriguing form, were difficult to diagnose, and did not conform to any classification or previous description...
  38. ncbi request reprint Retinocytoma associated with calcified vitreous deposits
    T Hadjistilianou
    Department of Ophthalmological and Neurosurgical Sciences, University of Siena, Siena, Italy
    Eur J Ophthalmol 16:349-51. 2006
    ..To report a case of bilateral retinocytoma associated with calcified vitreous deposits...
  39. ncbi request reprint Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation
    A Federico
    Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Siena, Italy
    Neurology 67:353-5. 2006
    ..Sequence analysis of EIF2B5 gene showed that the patient was a double heterozygote, with novel missense mutation CGA-->CAA in codon 269 of exon 6, resulting in the replacement of an arginine residue with glutamine...
  40. ncbi request reprint Air-guided manual deep anterior lamellar keratoplasty: long-term results and confocal microscopic findings
    A Balestrazzi
    Department of Ophthalmology and Neurosurgery, University of Siena, Siena, Italy
    Eur J Ophthalmol 17:897-903. 2007
    ..To evaluate the long-term results of air-guided manual deep anterior lamellar keratoplasty (DALK) and to perform confocal microscopy on postoperative DALK corneas...
  41. doi request reprint Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI
    Maria Laura Stromillo
    Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy
    J Neurol 258:2240-7. 2011
    ..The correlation of these MR metrics with measures of patients' disease severity suggests that they might represent adequate surrogate markers of disease outcome...
  42. doi request reprint Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA
    E Cardaioli
    Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, Siena, Italy
    J Neurol Sci 272:106-9. 2008
    ..This alteration, absent in a population of 110 patients with different encephalomyopathies, can be considered pathogenic: it is the tenth tRNA(Leu(CUN)) pathogenic mutation described up to date...
  43. ncbi request reprint Typical pathological changes of CADASIL in the optic nerve
    A Rufa
    Neurology and Neurometabolic Disease Unit Center for the Diagnosis, Prevention and Therapy of Neurological Handicap, Department of Neurological and Behavioral Sciences, Medical School, University of Siena, Viale Bracci 2, I 53100 Siena, Italy
    Neurol Sci 26:271-4. 2005
    ..Arteriole lumina were slightly narrowed. In conclusion, the typical pathological changes of CADASIL occur in the optic nerve and may contribute to impairment of visual function in CADASIL...
  44. doi request reprint Leukoencephalopathy in 21-beta hydroxylase deficiency: report of a family
    Carmen Gaudiano
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy
    Brain Dev 32:421-4. 2010
    ..We therefore suggest performing CYP21 gene analysis in subjects with brain MRI evidence of white matter abnormalities that cannot otherwise be explained...
  45. ncbi request reprint Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME)
    F Vitelli
    Genetica Medica, Policlinico Le Scotte, Siena, Italy
    Genomics 55:335-40. 1999
    ..Analysis of the predicted protein product using ExPAsy tools raises the possibility that the gene may code for a regulatory factor potentially involved in the development of AMME contiguous gene deletion syndrome...
  46. ncbi request reprint Evaluation of brain apoptosis in a CADASIL postmortem case
    C Battisti
    O U of Neurometabolic Diseases, Department of Neurological, Neurosurgical and Behavioural Sciences, Policlinico Le Scotte, Siena, Italy
    Clin Neuropathol 28:358-61. 2009
    ....
  47. ncbi request reprint Mitochondrial alterations in muscle biopsies of patients on statin therapy
    S Gambelli
    Department of Neurological and Behavioural Sciences, University of Siena, Siena, Italy
    J Submicrosc Cytol Pathol 36:85-9. 2004
    ..These findings confirm that statins may cause muscle damage and impair oxidative metabolism...
  48. ncbi request reprint Nerve growth factor expression in human dystrophic muscles
    Paolo Toti
    Department of Human Pathology and Oncology, University of Siena, Via delle Scotte, 53100 Siena, Italy
    Muscle Nerve 27:370-3. 2003
    ..Moreover, being a mediator of wound healing and tissue fibrosis, NGF may contribute to long-term muscle regeneration impairment by tissue fibrosis in the muscular dystrophies...
  49. ncbi request reprint Nemaline myopathy: description of an adult onset case
    F Ginanneschi
    Research Center for Diagnosis, Therapy and Prevention of Neurohandicaps, Working Unit for Neurometabolic Diseases, University of Siena, Italy
    J Submicrosc Cytol Pathol 34:105-8. 2002
    ..This myopathy should be taken into account in the differential diagnosis of adult onset myopathies. Only ultrastructural examination allows an exact diagnosis...
  50. pmc DNA end labelling (TUNEL) in a 3 year old girl with Leigh syndrome and prevalent cortical involvement
    P Formichi
    Department of Neurological and Behavioural Sciences, Section of Neurological Sciences, University of Siena, Siena, Italy
    J Neurol Neurosurg Psychiatry 75:930-2. 2004
    ..The abundance of TUNEL positive nuclei in cortical areas in the present case suggests that the apoptosis may be involved in the mechanism of neuronal death in Leigh syndrome...
  51. ncbi request reprint Leukoencephalopathy as a rare complication of hepatitis C infection
    R Buccoliero
    Department of Neurological and Behavioural Science, Unit of Neurology and Neurometabolic Diseases, Medical School, University of Siena, Viale Bracci 2, I 53100 Siena, Italy
    Neurol Sci 27:360-3. 2006
    ....
  52. ncbi request reprint Early diagnosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): the role of MRI
    Francesco Fattapposta
    Department of Neurology and Otolaryngology, University of Rome La Sapienza, Italy
    Funct Neurol 19:239-42. 2004
    ..Moreover, these findings suggest that genetic screening is warranted in the presence of a suspect clinical history with specific MRI abnormalities...
  53. ncbi request reprint Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations
    Clarice Patrono
    Molecular Medicine, IRCCS Bambino Gesù, Rome, Italy
    Hum Mutat 25:506. 2005
    ..In addition, it provided an efficient, cost-effective, and reliable detection protocol for mutational screening of SPG4, which might facilitate medical genetic counseling...
  54. ncbi request reprint 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...
  55. ncbi request reprint Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease
    Tiziana Squillaro
    J Hum Genet 52:201-4. 2007
    ..2%). These results confirm that the G2019S mutation is a relevant cause of sporadic PD cases in the Italian population and stress the importance of performing this genetic test, which has important implications for genetic counselling...