Unique Cerebellar-Cerebral Form of Autosomal Recessive 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...
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Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. For many affected patients, the genetic cause remains undetermined. Through whole-exome sequencing, we identified compound heterozygous mutations in ubiquitin-like modifier activating enzyme 5 gene (UBA5) in two Chinese siblings presenting with ARCA. Moreover, copy number varia...
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...
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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 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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ژورنال
عنوان ژورنال: The Tohoku Journal of Experimental Medicine
سال: 2005
ISSN: 0040-8727,1349-3329
DOI: 10.1620/tjem.207.81