Clinical manifestations of episodic ataxia type 5
نویسندگان
چکیده
منابع مشابه
Familial episodic ataxia type II.
The familial episodic ataxia type II is a rare, dominantly inherited disease characterized by episodes of ataxia of early onset, often with completely normal cerebellar function between attacks. We report a family with affected members who had features of episodic ataxia type II and cerebellar atrophy on MRI imaging. All the affected members were successfully treated with acetazolamide, a carbo...
متن کاملSpinocerebellar ataxia type 6 and episodic ataxia type 2 in a Korean family.
Spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2) and familial hemiplegic migraine (FHM) have been known as allelic disorders, which are caused by the alteration of the alpha1A voltage-dependent calcium channel subunit. Expansions of the CAG repeat in the CACNA1A gene on the short arm of the chromosome 19 induce SCA6, and point mutations in the same gene are responsible for EA2...
متن کاملSpinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders.
Spinocerebellar ataxia type 6 (SCA6) is one of three allelic disorders caused by mutations of CACNA1A gene, coding for the pore-forming subunit of calcium channel type P/Q. SCA6 is associated with small expansions of a CAG repeat at the 3' end of the gene, while point mutations are responsible for its two allelic disorders (Episodic Ataxia type 2 and Familial Hemiplegic Migraine). Genetic, clin...
متن کامل5 Spinocerebellar Ataxia Type 2
The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections. The degenerative process may additionally involves the pontomedullar systems, pyramidal tracts, basal ganglia, cerebral cortex, peripheral nerves (ADCA I) and the retin...
متن کاملClinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1
BACKGROUND AND OBJECTIVE Heterozygous mutations in KCNA1 cause episodic ataxia type 1 (EA1), an ion channel disorder characterised by brief paroxysms of cerebellar dysfunction and persistent neuromyotonia. This paper describes four previously unreported families with EA1, with the aim of understanding the phenotypic spectrum associated with different mutations. METHODS 15 affected individuals...
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ژورنال
عنوان ژورنال: Neurology: Clinical Practice
سال: 2019
ISSN: 2163-0402,2163-0933
DOI: 10.1212/cpj.0000000000000697