Spinocerebellar ataxia type 8 | About the Disease | GARD
网页Spinocerebellar ataxia type 8 (SCA8) is an inherited neurodegenerative condition characterized by slowly progressive ataxia (problems with movement, balance, and coordination). Common initial symptoms include dysarthria, slow …
Spinocerebellar Ataxia Type 8 - GeneReviews® - NCBI Bookshelf
网页2001年11月27日 · SCA8 is a slowly progressive ataxia with onset typically in the third to fifth decade but with a range from before age one year to after age 60 years. Common initial manifestations are scanning dysarthria with a characteristic drawn-out slowness of speech and gait instability.
网页What is spinocerebellar Ataxia type 8? Spinocerebellar Ataxia type 8 (SCA8) is one type of Ataxia among a group of inherited diseases of the central nervous system. As in other inherited Ataxia, SCA8 is the result of genetic defects that lead to impairment of specific nerve fibers carrying messages
Spinocerebellar Ataxia - StatPearls - NCBI Bookshelf
网页2023年9月15日 · Spinocerebellar ataxia (SCA) is a progressive neurodegenerative inherited (autosomal dominant) heterogeneous disease that mainly affects the cerebellum. SCA is a subset of hereditary cerebellar ataxia and is a rare disease. This activity will review the presentation, evaluation, and treatment of this condition by an interprofessional team.
Spinocerebellar ataxia type 8 | Neurology
网页2000年9月12日 · Objective: To compare the clinical and genetic features of the seven-generation family (MN-A) used to define the spinocerebellar ataxia 8 (SCA8) locus. Background: The authors recently described an untranslated CTG expansion that causes a novel form of SCA (SCA8) characterized by reduced penetrance and complex patterns of repeat instability.
Current and emerging treatment modalities for spinocerebellar …
网页Spinocerebellar ataxias (SCA) are a group of rare neurodegenerative diseases that dramatically affect the lives of affected individuals and their families. Despite having a clear understanding of SCA’s etiology, there are no current symptomatic or neuroprotective treatments approved by the FDA. Areas covered:
Neuropathology of spinocerebellar ataxia type 8: Common
网页Spinocerebellar ataxia type 8 (SCA8) is a neurodegenerative condition that presents with several neurological symptoms, such as cerebellar ataxia, parkinsonism, and cognitive impairment. It is caused by a CTA/CTG repeat expansion on chromosome 13q21 (ataxin 8 opposite strand [ATXN8OS]).
Neuropathology of spinocerebellar ataxia type 8: Common …
网页2023年1月26日 · Spinocerebellar ataxia type 8 (SCA8) is a neurodegenerative condition that presents with several neurological symptoms, such as cerebellar ataxia, parkinsonism, and cognitive impairment. It is caused by a CTA/CTG repeat expansion on chromosome 13q21 (ataxin 8 opposite strand [ ATXN8OS ]).
Spinocerebellar Ataxia Type 8 - PubMed
网页2021年4月22日 · Clinical characteristics: SCA8 is a slowly progressive ataxia with onset typically in the third to fifth decade but with a range from before age one year to after age 60 years. Common initial manifestations are scanning dysarthria with a characteristic drawn-out slowness of speech and gait instability.
Spinocerebellar ataxia: an update | Journal of Neurology - Springer
网页2018年10月3日 · Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic disorders with autosomal dominant inheritance. We aim to provide an update on the recent clinical and scientific progresses in SCA where numerous novel genes have been identified with next-generation sequencing techniques.