Familial periodic ataxia

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

A teen-age girl presented with recurrent stereotyped episodes of vertigo and ataxia and manifested constant horizontal gaze-evoked nystagmus. Cranial computed tomographic scans and metabolic biochemical screens gave normal results. The diagnosis of familial periodic ataxia was made from the family history and examination of the family members. Familial periodic ataxia is a rare disorder of cerebellar function which is inherited dominantly and has a benign prognosis. The underlying pathophysiology remains uncertain but a therapeutic response frequently is achieved with acetazolamide.

Original languageEnglish
Pages (from-to)277-8
Number of pages2
JournalThe Medical journal of Australia
Volume150
Issue number5
Publication statusPublished - 6 Mar 1989

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Ataxia
Cerebellar Diseases
Acetazolamide
Vertigo
Therapeutics

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title = "Familial periodic ataxia",
abstract = "A teen-age girl presented with recurrent stereotyped episodes of vertigo and ataxia and manifested constant horizontal gaze-evoked nystagmus. Cranial computed tomographic scans and metabolic biochemical screens gave normal results. The diagnosis of familial periodic ataxia was made from the family history and examination of the family members. Familial periodic ataxia is a rare disorder of cerebellar function which is inherited dominantly and has a benign prognosis. The underlying pathophysiology remains uncertain but a therapeutic response frequently is achieved with acetazolamide.",
keywords = "Acetazolamide/therapeutic use, Adolescent, Adult, Ataxia/genetics, Female, Humans, Periodicity, Vertigo/genetics",
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language = "English",
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journal = "Medical Journal Australia",
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}

Familial periodic ataxia. / Hankey, G J; Gubbay, S S.

In: The Medical journal of Australia, Vol. 150, No. 5, 06.03.1989, p. 277-8.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Familial periodic ataxia

AU - Hankey, G J

AU - Gubbay, S S

PY - 1989/3/6

Y1 - 1989/3/6

N2 - A teen-age girl presented with recurrent stereotyped episodes of vertigo and ataxia and manifested constant horizontal gaze-evoked nystagmus. Cranial computed tomographic scans and metabolic biochemical screens gave normal results. The diagnosis of familial periodic ataxia was made from the family history and examination of the family members. Familial periodic ataxia is a rare disorder of cerebellar function which is inherited dominantly and has a benign prognosis. The underlying pathophysiology remains uncertain but a therapeutic response frequently is achieved with acetazolamide.

AB - A teen-age girl presented with recurrent stereotyped episodes of vertigo and ataxia and manifested constant horizontal gaze-evoked nystagmus. Cranial computed tomographic scans and metabolic biochemical screens gave normal results. The diagnosis of familial periodic ataxia was made from the family history and examination of the family members. Familial periodic ataxia is a rare disorder of cerebellar function which is inherited dominantly and has a benign prognosis. The underlying pathophysiology remains uncertain but a therapeutic response frequently is achieved with acetazolamide.

KW - Acetazolamide/therapeutic use

KW - Adolescent

KW - Adult

KW - Ataxia/genetics

KW - Female

KW - Humans

KW - Periodicity

KW - Vertigo/genetics

M3 - Article

VL - 150

SP - 277

EP - 278

JO - Medical Journal Australia

JF - Medical Journal Australia

SN - 0025-729X

IS - 5

ER -