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SPINOCEREBELLAR ATAXIA 17

Known as: HDL4, Huntington Disease-Like 4, SCA17 
National Institutes of Health

Related topics

Related topics

26 relations
Action TremorAggressive behaviorApraxiasAutosomal dominant inheritance

Broader (1)

Ataxia, Spinocerebellar

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2015
Review
2015
Parkinsonism in Spinocerebellar Ataxia
Spinocerebellar ataxia (SCA) presents heterogeneous clinical phenotypes, and parkinsonism is reported in diverse SCA subtypes… 
Highly Cited
2014
Highly Cited
2014
Age-Dependent Decrease in Chaperone Activity Impairs MANF Expression, Leading to Purkinje Cell Degeneration in Inducible SCA17 Mice
2011
2011
Spinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic cases.
OBJECTIVE To undertake an updated genetic spectrum analysis in patients with hereditary spinocerebellar ataxia (SCA) in mainland… 
Highly Cited
2007
Highly Cited
2007
The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment.
Highly Cited
2006
Highly Cited
2006
Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17).
Spinocerebellar ataxia 17 (SCA17) is a rare genetic disorder characterized by cerebellar, extrapyramidal, pyramidal as well as… 
2006
2006
Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17
Extrapyramidal signs are a main feature of spinocerebellar ataxia 17 (SCA17). However, the extent of dopaminergic dysfunction and… 
Highly Cited
2004
Highly Cited
2004
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
BACKGROUND Autosomal dominant cerebellar ataxias are a clinical and genetically heterogeneous group of progressive… 
Highly Cited
2004
Highly Cited
2004
Focal dystonia as a presenting sign of spinocerebellar ataxia 17
We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the… 
Highly Cited
2003
Highly Cited
2003
Phenotypical variability of expanded alleles in the TATA-binding protein gene
Abstract. Trinucleotide expansions in the gene for the TATA-binding protein (TBP) have recently been described in cerebellar… 
Highly Cited
1977
Highly Cited
1977
Solubilisation of phospholipid membranes by human plasma high density lipoproteins
HUMAN plasma high density lipoproteins (HDL) seem to have a protective effect against the development of atherosclerosis1,2… 
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