SYNE1Mutations in Autosomal Recessive Cerebellar Ataxia
نویسندگان
چکیده
منابع مشابه
Unique cerebellar-cerebral form of autosomal recessive ataxia.
We describe a unique condition affecting two siblings with a form of progressive spinocerebellar ataxia. After a period of very slowly progressive ataxia, the patients developed an extremely accelerated progression of the condition which consisted of cerebellar ataxia, seizure, progressive dementia and spastic tetraparesis. Age of onset was variable at 7 to 18 years. Brain magnetic resonance im...
متن کاملAutosomal recessive cerebellar ataxias
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. This g...
متن کاملVestibular findings in autosomal recessive ataxia.
OBJECTIVE This study aims to examine vestibular disorders in patients with recessive spinocerebellar ataxia. DESIGN A retrospective cross-sectional study was conducted. The patients underwent the following procedures: case history, ENT and vestibular evaluations. STUDY SAMPLE The tests were performed in 19 patients ranging from 6 to 63 years of age (mean age of 36.7). RESULTS Clinically, ...
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A new syndrome of autosomal recessive spastic ataxia has been isolated in the Charlevoix-Saguenay region of Quebec. This syndrome is remarkably homogeneous and includes: spasticity, dysarthria, distal muscle wasting, foot deformities, truncal ataxia, absence of sensory evoked potentials in the lower limbs, retinal striation reminiscent of early Leber's atrophy and the frequent presence (57%) of...
متن کاملAutosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
Autosomal-recessive congenital cerebellar ataxia was identified in Roma patients originating from a small subisolate with a known strong founder effect. Patients presented with global developmental delay, moderate to severe stance and gait ataxia, dysarthria, mild dysdiadochokinesia, dysmetria and tremors, intellectual deficit, and mild pyramidal signs. Brain imaging revealed progressive genera...
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ژورنال
عنوان ژورنال: JAMA Neurology
سال: 2013
ISSN: 2168-6149
DOI: 10.1001/jamaneurol.2013.3268