Episodic ataxia: a 20-year diagnostic delay
نویسندگان
چکیده
منابع مشابه
Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.
Complex neurologic phenotypes are inherently difficult to diagnose. Whole-exome sequencing (WES) is a new tool in the neurologist's diagnostic armamentarium. Whole-exome sequencing can be applied to investigate the "diagnostic odyssey" cases. These cases involve patients with rare diseases that likely have a genetic etiology but have failed to be diagnosed by clinical evaluation and targeted ge...
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We report a patient with episodic ataxia (presumably of type 2) who developed cerebral oedema secondary to a common infection (presumably viral). Cerebral oedema may be a part of the clinical spectrum of familial episodic ataxia and argues for an overlap with hemiplegic migraine. It is suggested to consider a diagnosis of episodic ataxia or familial hemiplegic migraine in catastrophic reactions...
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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 کاملLarge scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.
BACKGROUND Episodic ataxia type 2 (EA2) and familial hemiplegic migraine type 1 (FHM1) are autosomal dominant disorders characterised by paroxysmal ataxia and migraine, respectively. Point mutations in CACNA1A, which encodes the neuronal P/Q-type calcium channel, have been detected in many cases of EA2 and FHM1. The genetic basis of typical cases without CACNA1A point mutations is not fully kno...
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ژورنال
عنوان ژورنال: Neurología (English Edition)
سال: 2020
ISSN: 2173-5808
DOI: 10.1016/j.nrleng.2019.02.009