Aggravation of ataxia due to acetazolamide induced hyperammonaemia in episodic ataxia
نویسندگان
چکیده
منابع مشابه
De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia.
With the recent report of mutations in the calcium channel gene CACNA1A in two families with episodic ataxia type 2, we investigated a patient with nonfamilial episodic vertigo and ataxia responsive to acetazolamide for similar mutations. Single-strand conformation polymorphism (SSCP) analysis of exon 23 identified an extra band in the patient that was not present in other relatives or in norma...
متن کاملSpinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia.
The SCA6 mutation, a small expansion of a CAG repeat in a calcium channel gene CACNA1A, was identified in three pedigrees. Point mutations in other parts of the gene CACNA1A were excluded and new clinical features of SCA6 reported--namely, central positional nystagmus and episodic ataxia responsive to acetazolamide. The three allelic disorders, episodic ataxia type 2, familial hemiplegic migrai...
متن کاملFamilial periodic ataxia responsive to acetazolamide.
Two cases, a father and son, of recurrent cerebellar ataxia in the same family are reported, suggesting a familial trait for the dysfunction. In the older male the onset of each episode (30-90 min.) was signalled by dysarthria which then progressed towards gait ataxia; the son presented closely similar clinical symptoms. Physical examination and blood chemistry revealed no obvious neurological ...
متن کاملAcetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.
BACKGROUND Leukoencephalopathy with brain stem and spinal cord involvement and brain lactate elevation (LBSL) was recently shown to be caused by mutations in the DARS2 gene, encoding a mitochondrial aspartyl-tRNA synthetase. So far, affected individuals were invariably compound heterozygous for two mutations in DARS2, and drug treatments have remained elusive. METHODS Prospective 2-year follo...
متن کاملCerebral oedema in episodic ataxia.
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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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 2006
ISSN: 0022-3050
DOI: 10.1136/jnnp.2006.105353