N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy
نویسندگان
چکیده
منابع مشابه
Dominantly inherited optic atrophy.
LEBER'S disease, with its sudden onset in adolescence or early adult life, its rapid course, and puzzling mode of inheritance, has overshadowed other forms of inherited optic atrophy. The early literature contained many cases of "atypical" Leber's disease, but the continued emphasis on the established form, even in the monumental review by Bell (1931), hampered the emergence of other forms as s...
متن کاملCerebellar degeneration in dominantly inherited spastic paraplegia.
The clinical features of five affected members in three generations of a family with dominantly inherited Strumpell's spastic paraplegia are described, together with the pathological findings in two cases. The late presentation and slow progression of the disease encompass features of the types I and II of other authors illustrating the heterogeneous expression of the disorder. Cerebellar invol...
متن کاملAlpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.
OBJECTIVE Genomic multiplications of the alpha-synuclein gene (SNCA) cause autosomal dominant Parkinson disease (ADPD). 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. DESIGN Patients were screened by the exon dosage of the SNCA gene. The genotype of patients and relatives carrying S...
متن کاملBrain acetylcholinesterase activity is markedly reduced in dominantly-inherited olivopontocerebellar atrophy.
The activity was measured of the acetylcholine catabolising enzyme acetylcholinesterase (AChE) in brain after necropsy of seven patients from one established pedigree with dominantly-inherited olivopontocerebellar atrophy (OPCA), a cerebellar ataxia disorder in which neuropathological changes are assumed to be primarily restricted to cerebellum, lower brain stem and spinal cord. Mean AChE activ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of the Neurological Sciences
سال: 2016
ISSN: 0022-510X
DOI: 10.1016/j.jns.2016.04.007