From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17

Introduction. Spinocerebellar ataxia 17 (SCA 17) is a rare autosomal dominant cerebellar ataxia (ADCA) caused by a CAG/CAA expansion in theTBPgene, reported from a limited number of countries. It is a very heterogeneous ADCA characterized by ataxia, cognitive decline, psychiatric symptoms, and involuntary movements, with some patients presenting with Huntington disease (HD) phenocopies. The SCA 17 expansion is stable during parent-child transmission and intrafamilial phenotypic homogeneity has been reported. However, significant phenotypic variability within families has also been observed.Report of the Family. We presently report a Greek family with a pathological expansion of 54 repeats at the SCA 17 locus that displayed remarkable phenotypic variability. Among 3 affected members, one presented with HD phenocopy; one with progressive ataxia, dementia, chorea, dystonia, and seizures, and one with mild slowly progressive ataxia with minor cognitive and affective symptoms.Conclusions. This is the first family with SCA 17 identified in Greece and highlights the multiple faces of this rare disorder, even within the same family.

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Spinocerebellar Ataxia 17: A clinical Rubik’s cube

American Research Journal of Clinical Case Reports ◽

10.21694/2639-3069.20002 ◽

2020 ◽

Vol 2 (1) ◽

pp. 1-3

Author(s):

Dr. Rahul Jain ◽

Dr. Pankaj Rathi ◽

Dr. Hashash Singh Ishar ◽

Dr. Kapil Telang ◽

Dr. Dinesh Chouksey ◽

...

Keyword(s):

Family History ◽

Cerebellar Ataxia ◽

Spinocerebellar Ataxia ◽

Huntington Disease ◽

Autosomal Dominant ◽

Clinical Spectrum ◽

Autosomal Dominant Cerebellar Ataxia ◽

Juvenile Parkinsonism ◽

Rubik’S Cube ◽

Indian Male

Spinocerebellar ataxia 17 (SCA 17) has been recognized as one of the most heterogeneous forms of autosomal dominant cerebellar ataxia (ADCA), with a wide clinical spectrum at presentation. SCA17 presenting as Huntington disease like-4 (HDL-4) phenotype has been observed only sporadically or in solitary individuals within a family. We report the case of a young Indian male who presented with juvenile Parkinsonism (HDL like phenotype) features without family history subsequently diagnosed as SCA17.

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Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis

The Cerebellum ◽

10.1007/s12311-008-0053-9 ◽

2008 ◽

Vol 7 (2) ◽

pp. 184-188 ◽

Cited By ~ 42

Author(s):

Caterina Mariotti ◽

Alfredo Brusco ◽

Daniela Di Bella ◽

Claudia Cagnoli ◽

Marco Seri ◽

...

Keyword(s):

Cerebellar Ataxia ◽

Spinocerebellar Ataxia ◽

Autosomal Dominant ◽

Autosomal Dominant Cerebellar Ataxia ◽

Spinocerebellar Ataxia Type ◽

Slow Progression

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Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity

Brain ◽

10.1093/brain/116.6.1497 ◽

1993 ◽

Vol 116 (6) ◽

pp. 1497-1508 ◽

Cited By ~ 26

Author(s):

A. Durr ◽

H. Chneiweiss ◽

C. Khati ◽

G. Stevanin ◽

G. Cancel ◽

...

Keyword(s):

Cerebellar Ataxia ◽

Genetic Heterogeneity ◽

Autosomal Dominant ◽

Phenotypic Variability ◽

Autosomal Dominant Cerebellar Ataxia ◽

Type I

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Molecular heterogeneity of autosomal dominant cerebellar ataxia: analysis of flanking microsatellites of the spinocerebellar ataxia 1 locus in a northern European family unequivocally demonstrates non-linkage

Human Genetics ◽

10.1007/bf00217357 ◽

1993 ◽

Vol 91 (4) ◽

Cited By ~ 2

Author(s):

Astrid Lunkes ◽

Suzana Gispert ◽

J�rgen Enczmann ◽

Georg Auburger

Keyword(s):

Cerebellar Ataxia ◽

Spinocerebellar Ataxia ◽

Autosomal Dominant ◽

Autosomal Dominant Cerebellar Ataxia ◽

Molecular Heterogeneity ◽

Northern European ◽

Spinocerebellar Ataxia 1 ◽

European Family

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Spinocerebellar ataxia type 7: A distinctive form of autosomal dominant cerebellar ataxia with retinopathy and marked genetic anticipation

Journal of Paediatrics and Child Health ◽

10.1046/j.1440-1754.2001.00560.x ◽

2001 ◽

Vol 37 (1) ◽

pp. 81-84 ◽

Cited By ~ 6

Author(s):

PJ Grattan-Smith ◽

S Healey ◽

JR Grigg ◽

J Christodoulou

Keyword(s):

Cerebellar Ataxia ◽

Spinocerebellar Ataxia ◽

Autosomal Dominant ◽

Autosomal Dominant Cerebellar Ataxia ◽

Spinocerebellar Ataxia Type ◽

Genetic Anticipation ◽

Spinocerebellar Ataxia Type 7

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Spinocerebellar ataxia type 6

Neurology ◽

10.1212/wnl.49.5.1247 ◽

1997 ◽

Vol 49 (5) ◽

pp. 1247-1251 ◽

Cited By ~ 103

Author(s):

D. H. Geschwind ◽

S. Perlman ◽

K. P. Figueroa ◽

J. Karrim ◽

R. W. Baloh ◽

...

Keyword(s):

Spinocerebellar Ataxia ◽

Episodic Ataxia ◽

Autosomal Dominant Cerebellar Ataxia ◽

Spinocerebellar Ataxia Type ◽

Imaging Data ◽

Spinocerebellar Ataxia Type 6 ◽

Episodic Ataxia Type 2 ◽

Progressive Ataxia ◽

Expanded Allele ◽

Episodic Course

Spinocerebellar ataxia type 6 (SCA6) is the most recently identified mutation causing autosomal-dominant cerebellar ataxia without retinal degeneration (ADCA). The SCA6 mutation is allelic with episodic ataxia type 2(EA-2), but the two differ clinically because of the presence of progressive, rather than episodic, ataxia in SCA6. SCA6 accounts for 12% of families with ADCA in an ethnically heterogeneous population of patients. Clinical examination, quantitative eye movement testing, and imaging data show that the brainstem is normal in most patients with SCA6, especially within the first 10 years of symptoms. Most patients show progressive ataxia from the onset, but several patients show an episodic course resembling EA-2. Thus, SCA6 mutations not only account for patients with ADCA I and ADCA III phenotypes but also for some patients presenting with episodic features that are typical for EA-2. Interestingly, a compound heterozygote for the SCA6 expansion manifested an earlier onset and more rapid course than family members with the same larger expanded allele.

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