Clinical and MRI findings in spinocerebellar ataxia type 5

Stevanin, Giovanni; Herman, Alexandra; Brice, Alexis; Dürr, Alexandra

doi:10.1212/wnl.53.6.1355

Cited by 73 publications

(40 citation statements)

References 9 publications

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“…19 Individual IV-8 does not share a 3-marker paternal haplotype with her affected siblings, nor do members of this sibship share a haplotype with the affected MZ twins, V-1 and V-2.…”

Section: Genetic Analysismentioning

confidence: 95%

Familial dyskinesia and facial myokymia (FDFM): A novel movement disorder

Fernandez

Raskind

Wolff

et al. 2001

Annals of Neurology

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We describe here familial dyskinesia and facial myokymia (FDFM), a novel autosomal dominant disorder characterized by adventitious movements that sometimes appear choreiform and that are associated with perioral and periorbital myokymia. We report a 5-generation family with 18 affected members (10 males and 8 females) with FDFM. The disorder has an early childhood or adolescent onset. The involuntary movements are paroxysmal at early ages, increase in frequency and severity, and may become constant in the third decade. Thereafter, there is no further deterioration, and there may even be improvement in old age. The adventitious movements are worsened by anxiety but not by voluntary movement, startle, caffeine, or alcohol. The disease is socially disabling, but there is no intellectual impairment or decrease in lifespan. A candidate gene and haplotype analysis was performed in 9 affected and 3 unaffected members from 3 generations of this family using primers for polymorphic loci closely flanking or within genes of interest. We excluded linkage to 11 regions containing genes associated with chorea and myokymia: 1) the Huntington disease gene on chromosome 4p; 2) the paroxysmal dystonic choreoathetosis gene at 2q34; 3) the dentatorubral-pallidoluysian atrophy gene at 12p13; 4) the choreoathetosis/spasticity disease locus on 1p that lies in a region containing a cluster of potassium (K+) channel genes; 5) the episodic ataxia type 1 (EA1) locus on 12p that contains the KCNA1 gene and two other voltage-gated K+ channel genes, KCNA5 and KCNA6; 6) the chorea-acanthocytosis locus on 9q21; 7) the Huntington-like syndrome on 20p; 8) the paroxysmal kinesigenic dyskinesia locus on 16p11.2-q11.2; 9) the benign hereditary chorea locus on 14q; 10) the SCA type 5 locus on chromosome 11; and 11) the chromosome 19 region that contains several ion channels and the CACNA1A gene, a brain-specific P/Q-type calcium channel gene associated with ataxia and hemiplegic migraine. Our results provide further evidence of genetic heterogeneity in autosomal dominant movement disorders and suggest that a novel gene underlies this new condition.

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“…19 Individual IV-8 does not share a 3-marker paternal haplotype with her affected siblings, nor do members of this sibship share a haplotype with the affected MZ twins, V-1 and V-2.…”

Section: Genetic Analysismentioning

confidence: 95%

Familial dyskinesia and facial myokymia (FDFM): A novel movement disorder

Fernandez

Raskind

Wolff

et al. 2001

Annals of Neurology

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“…(1) Putative pathogenic mutations have been demonstrated in all linked SCA5 families including the large American, (3) a smaller French (4) and a large German family (5) (Fig. 1).…”

Section: Spinocerebellar Ataxia Type 5 (Sca5)mentioning

confidence: 99%

Spectrin mutations in spinocerebellar ataxia (SCA)

2006

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Recently, betaIII spectrins have been recognized as ataxia disease genes, with the identification by Ikeda and co-workers of pathogenic mutations in the SPTBN2 gene in three large (and mapped) SCA5 families of American and European origin.((1)) With their discovery, the large "Lincoln" family has been traced back to the underlying genetic defect for the slowly progressive cerebellar ataxia. In addition, the involvement of this component of the cytoskeleton directs attention towards the possible role of organelle stability during neurodegeneration. The findings suggest that the mechanical properties of neurons and their dynamics may be as important as altered Ca(2+) homeostasis, transcriptional dysregulation, and impaired protein degradation in neurodegeneration conditions.

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“…45 18,110 Episodic ataxia has been described as the presenting sign in some SCA6 patients. 72 The clinical signs associated with the SCA1 mutation are in general broader and homogeneous, and the patients have usually a pyramidal syndrome, often with hyperreflexia.…”

Section: Clinical Presentation In Patientsmentioning

confidence: 99%

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

2000

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Major advances have been made in the understanding of autosomal dominant cerebellar ataxias since genetic markers came into use in the 1980s. The subsequent mapping of nine genes, six of which have been identified, involved in this clinically diverse group of disorders highlighted their great genetic heterogeneity. Evidence is now accumulating that, except for SCA8, the same molecular and physiopathological processes underlie these diseases and other neurodegenerative disorders sharing the same mutational basis, the expansion of a (CAG)n-polyglutamine coding sequence. The clinical overlap among the different genetic entities makes prediction of the molecular origin impossible in a single patient so that molecular characterisation is necessary. However, extended clinical and neuropathological comparisons have shown that each genetic entity has a characteristic constellation of signs and symptoms that are related to CAG repeat size and disease duration. The combined genetic and clinical information form the basis of a new classification that will aid better understanding of disease evolution, assure follow up and permit genetic counselling by the clinician.

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Clinical and MRI findings in spinocerebellar ataxia type 5

Cited by 73 publications

References 9 publications

Familial dyskinesia and facial myokymia (FDFM): A novel movement disorder

Familial dyskinesia and facial myokymia (FDFM): A novel movement disorder

Spectrin mutations in spinocerebellar ataxia (SCA)

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

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