Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy.
نویسندگان
چکیده
The association between hereditary motor and sensory neuropathy (HMSN) and optic atrophy has been termed HMSN type VI. The autosomal dominant inheritance of this syndrome is reported. Three generations were affected with optic atrophy, which differed in some respects from classic dominant optic atrophy, and an asymptomatic, mainly sensory, neuropathy.
منابع مشابه
Johann Jakob Wepfer (1620-95) and cerebral haemorrhage.
6 Weiller C, Ferbert A. Hereditary motor and sensory neuropathy (HMSN) and optic atrophy (HMSN Type VI, Vizioli). Eur Arch Psychiatry Clin Neurosci 1991;240: 246-9. 7 Vizioli F. Dell'atrofia progressiva nervosa. Bollettino della R Accademia Medico-Chirurgica di Napoli 1889;1: 173-83. 8 Sainton P. L'amyotrophie type Charcot-Marie [MD thesis]. University of Paris: Paris, 1899. 9 Ballet G, Rose F....
متن کاملOptic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation
We describe a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a c.235C > G p.(Leu79Val) variant in the optic atrophy 3 (OPA3) gene that was confirmed to be de novo. This report expands the severity of the phenotypic spectrum of autosomal dominant OPA3 mutations.
متن کاملRecessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1
Mutations in the optic atrophy 1 gene (OPA1) are associated with autosomal dominant optic atrophy and 20% of patients demonstrate extra-ocular manifestations. In addition to these autosomal dominant cases, only a few syndromic cases have been reported thus far with compound heterozygous OPA1 mutations, suggestive of either recessive or semi‑dominant patterns of inheritance. The majority of thes...
متن کاملReply: Spastic paraplegia in ‘dominant optic atrophy plus’ phenotype due to OPA1 mutation
Sir, Pretegiani et al. (2011) describe a 28-year-old female with early-onset optic atrophy who subsequently developed slowly progressive spastic paraplegia. Electrophysiological studies did not suggest a peripheral neuropathy and additional investigations excluded a primary demyelinating process as the cause of her neurological deficits. Interestingly, this patient was eventually found to harbo...
متن کاملDiffusion Tensor Imaging Mapping of Brain White Matter Pathology in Mitochondrial Optic Neuropathies.
BACKGROUND AND PURPOSE Brain white matter is frequently affected in mitochondrial diseases; optic atrophy gene 1-autosomal dominant optic atrophy and Leber hereditary optic neuropathy are the most frequent mitochondrial monosymptomatic optic neuropathies. In this observational study, brain white matter microstructure was characterized by DTI in patients with optic atrophy gene 1-autosomal domin...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 60 2 شماره
صفحات -
تاریخ انتشار 1996