Giant Axonal Neuropathy with CNS Involvement
نویسندگان
چکیده
منابع مشابه
Unusual Neuroimaging Findings in Two Families with Giant Axonal Neuropathy.
An 8-year-old boy, born to a third-degree consanguineous couple with no adverse perinatal events, presented with complaints of delayed development and gait abnormalities. He had global developmental delay with independent ambulation achieved at two years of age and monosyllables at 2.5 years of age. There was no regression. His hearing and vision were normal. He had had two episodes of generali...
متن کاملGiant axonal neuropathy: normal protein composition of neurofilaments.
A 14-year-old boy had progressive weakness and ataxia since two years of age with tightly curled hair, facial diplegia, distal weakness and hypaesthesia, cerebellar syndrome and normal intelligence. He also had distal renal tubular acidosis manifested by metabolic acidosis. Sural nerve ultrastructure showed numerous giant axons packed with neurofilaments. The neurofilament major proteins of 68 ...
متن کاملGiant axonal neuropathy: observations on a further patient.
A further child with giant axonal neuropathy (GAN), abnormally curly hair and consanguineous parents is described. Of the 19 patients with GAN so far reported in the literature, six, including the present patient, have resulted from consanguineous marriages. This makes autosomal recessive inheritance of GAN highly probable. Our patient also exhibited cerebellar ataxia and signs of pyramidal tra...
متن کاملGiant axonal neuropathy: clinical and genetic study in six cases.
BACKGROUND Giant axonal neuropathy (GAN) is a severe recessive disorder characterised by variable combination of progressive sensory motor neuropathy, central nervous system (CNS) involvement, and "frizzly" hair. The disease is caused by GAN gene mutations on chromosome 16q24.1. AIMS To search for GAN gene mutations in Turkish patients with GAN and characterise the phenotype associated with t...
متن کاملGiant axonal neuropathy: a conditional mutation affecting cytoskeletal organization
Giant axonal neuropathy (GAN) results from autosomal recessive mutations (gan-) that affect cytoskeletal organization; specifically, intermediate filaments (IFs) are found collapsed into massive bundles in a variety of different cell types. We studied the gan- fibroblast lines WG321 and WG139 derived from different GAN patients. Although previous studies implied that the gan- IF phenotype was c...
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: Pediatric Neurology Briefs
سال: 2005
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-19-6-5