Familial Paroxysmal Ataxia: Acetazolamide Therapy
نویسندگان
چکیده
منابع مشابه
Familial 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 hereditary paroxysmal ataxia: report of a family.
Hereditary paroxysmal ataxia is a rare dominantly inherited disorder characterized by recurrent attacks of cerebellar ataxia, dysarthria, and nystagmus. Each attack lasts from several minutes to few hours or days. Usually there are no motor difficulties between attacks. We report a patient who had had recurrent ataxic episodes since early childhood. Four members of the family over two generatio...
متن کاملFamilial paroxysmal ataxia: report of a family.
Three cases from one kindred who suffer from dominant paroxysmal ataxia are described. This is a rare benign non-progressive disorder of childhood onset, characterised by bouts of ataxia with abrupt onset lasting minutes or hours. Cases may be identified on the basis of a suggestive history, nystagmus persisting between episodes, and dominant inheritance. Treatment with acetazolamide is often d...
متن کاملFamilial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis.
Familial hemiplegic migraine is a rare autosomal dominant disorder associated with stereotypic neurologic aura phenomena including hemiparesis. So far two chromosomal loci have been identified. Families linked to the chromosome 19 locus display missense mutations within the CACNL1A4 gene. Here we report on a family with familial hemiplegic migraine and cerebellar ataxia with recurrent episodes ...
متن کاملTHE CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES QUEBEC COOPERATIVE STUDY OF FRIEDREICH'S ATAXIA Familial Periodic Ataxia Responsive to Acetazolamide
Twocases,afather and son, of recurrent cerebellarataxiain the same family are reported, suggestingafamilial 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 deficit...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1992
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-6-5-5