Periodic Vestibulocerebellar Ataxia, an Autosomal Dominant Ataxia With Defective Smooth Pursuit, Is Genetically Distinct From Other Autosomal Dominant Ataxias

Damji, Karim F.; Allingham, R. Rand; Pollock, Stephen C.; Small, Kent W.; Lewis, Karen E.; Stajich, Jeffrey M.; Yamaoka, Larry H.; Vance, Jeffery M.; Pericak‐Vance, Margaret A.

doi:10.1001/archneur.1996.00550040074016

Cited by 94 publications

(54 citation statements)

References 20 publications

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“…Autosomal dominant episodic ataxias are a heterogeneous group of disorders. Currently, three separate disorders (EA1, EA2, and PATX) have been described and two genes, KCNA1 and CACNA1A, are mutated in EA1 and EA2 respectively [Browne et al, 1994;Damji et al, 1996;Ophoff et al, 1996].…”

Section: Presumed Autosomal Dominant Disordersmentioning

confidence: 99%

Unique disease heritage of the Dutch‐German Mennonite population

Orton

Innes

Chudley

et al. 2008

American J of Med Genetics Pt A

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The Dutch-German Mennonites are a religious isolate with foundational roots in the 16th century. A tradition of endogamy, large families, detailed genealogical records, and a unique disease history all contribute to making this a valuable population for genetic studies. Such studies in the Dutch-German Mennonite population have already contributed to the identification of the causative genes in several conditions such as the incomplete form of X-linked congenital stationary night blindness (CSNB2; previously iCSNB) and hypophosphatasia (HOPS), as well as the discovery of founder mutations within established disease genes (MYBPC1, CYP17alpha). The Dutch-German Mennonite population provides a strong resource for gene discovery and could lead to the identification of additional disease genes with relevance to the general population. In addition, further research developments should enhance delivery of clinical genetic services to this unique community. In the current review we discuss 31 genetic conditions, including 17 with identified gene mutations, within the Dutch-German Mennonite population.

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Section: Presumed Autosomal Dominant Disordersmentioning

confidence: 99%

Unique disease heritage of the Dutch‐German Mennonite population

Orton

Innes

Chudley

et al. 2008

American J of Med Genetics Pt A

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“…Some patients develop progressive ataxia (166). EA4 responds to prophylaxis with dimenhydrinate (166) and is genetically distinct from SCA1, 2, 3, 4, 5, EA1, EA2 and DRPLA (168).…”

Section: Episodic Ataxiasmentioning

confidence: 99%

Neurochemistry and Neuropharmacology of the Cerebellar Ataxias

Gazulla¹,

Hermoso-Contreras²,

Tintoré³

2012

Spinocerebellar Ataxia

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“…About 20 families have been described [10][11][12][13][14][15][16][17][18][19] as a group, but they most probably represent heterogeneous [20] and even geneti cally distinct entities [21 ]. The condition com monly manifests in several family members either as recurrent attacks of unsteadiness of gait and stance or as attacks of vertigo and nystagmus.…”

Section: Ea Associated With 'Inlerictal Nystagmus (Type Ea-2)mentioning

confidence: 99%

“…Other families have been described with dominantly inherited syndromes different from those described above. They include familial periodic ataxia with progressive smooth pursuit defect [21], acetazolamide-responsive episodic familial vertigo (rather than ataxia) with progressive bilateral vestibular loss [46], and cerebellar atrophy found only in familial hemiplegic mi graine linked to chromosome 19p 13 [47], Epi sodic vertigo is a typical sign in the early stages of some cases of 'idiopathic bilateral vestibular failure'. Familial periodic ataxia of type EA-2 is obviously a heterogeneous group that requires further elaboration.…”

Section: £>1-2 a Cerebral Calcium Channelopathymentioning

confidence: 99%

Episodic Ataxia Type 1 and 2 (Familial Periodic Ataxia/Vertigo)

Brandt

Strupp²

1997

Audiol Neurotol

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Episodic ataxia (EA) is a rare, disabling condition of autosomal dominant inheritance, but it is not a distinct clinical entity. Synonyms are familial periodic ataxia or hereditary paroxysmal cerebellar ataxia. Family members have a similar clinical syndrome; however, the syndrome varies considerably from family to family. At least two groups of disorders have been separated clinically: (1) episodic ataxia type 1 (EA-1), which manifests without vertigo and is associated with ‘interictal’ myokymia, and (2) episodic ataxia type 2 (EA-2), which often manifests with vertigo and is associated with ‘interictaP nystagmus. EA-1 and EA-2 have been identified as channelopathies. EA-1 is due to different heterozygous missense point mutations in a voltage-gated (delayed rectifier) potassium channel gene (KCNAl/Kvl.l) on chromosome 12pl3, whereas EA-2 is caused by mutations of the cerebral P/Q-type calcium channel α1 subunit gene CACNL1A4 localized on chromosome 19p, which is highly expressed in the cerebellum. The diagnosis of EA-1 and EA-2 is important, since they can be easily treated and are often mislabeled. As effective as acetazolamide is in preventing attacks, prospective studies still have to prove whether it can prevent progressive ataxia in EA-2 or even improve chronic cerebellar deficits.

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Periodic Vestibulocerebellar Ataxia, an Autosomal Dominant Ataxia With Defective Smooth Pursuit, Is Genetically Distinct From Other Autosomal Dominant Ataxias

Abstract: Periodic vestibulocerebellar ataxia is genetically distinct from those autosomal dominant ataxias for which chromosomal localization has been established.

Cited by 94 publications

References 20 publications

Unique disease heritage of the Dutch‐German Mennonite population

Unique disease heritage of the Dutch‐German Mennonite population

Neurochemistry and Neuropharmacology of the Cerebellar Ataxias

Episodic Ataxia Type 1 and 2 (Familial Periodic Ataxia/Vertigo)

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