scholarly journals Spinocerebellar Ataxia 17: A clinical Rubik’s cube

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.

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

2008 ◽  
Vol 7 (2) ◽  
pp. 184-188 ◽  
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

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

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Georgios Koutsis ◽  
Marios Panas ◽  
George P. Paraskevas ◽  
Anastasia M. Bougea ◽  
Athina Kladi ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Huntington Disease ◽  
Autosomal Dominant ◽  
Psychiatric Symptoms ◽  
Phenotypic Variability ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Child Transmission ◽  
Affective Symptoms ◽  
Progressive Ataxia ◽  
The Family

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.

scholarly journals Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation

2000 ◽  
Vol 67 (1) ◽  
pp. 229-235 ◽  
Author(s):  
Alexandra Herman-Bert ◽  
Giovanni Stevanin ◽  
Jean-Claude Netter ◽  
Olivier Rascol ◽  
David Brassat ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cerebellar Ataxia ◽  
Spinocerebellar Ataxia ◽  
Autosomal Dominant ◽  
Autosomal Dominant Cerebellar Ataxia
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