Dilemma in differentiation of spinocerebellar ataxia type 17 from Huntington's disease: comorbidity or independent disease?

Article Neurosciences

Ocular Motor Findings Aid in Differentiation of Spinocerebellar Ataxia Type 17 from Huntington's Disease

Sun-Uk Lee et al.

Summary: Differentiation between spinocerebellar ataxia type 17 (SCA17) and Huntington's disease (HD) is challenging, but ocular motor findings can help distinguish between the two. Central positional nystagmus (CPN) is more frequently observed in SCA17, while saccadic slowing is more common in HD. Ocular motor abnormalities can be used as a diagnostic and surrogate marker for clinical decline in SCA17.

CEREBELLUM (2023)

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Article Genetics & Heredity

Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48

Stefania Magri et al.

Summary: The study aimed to uncover the genetic factors underlying missing heritability in SCA17 caused by CAG/CAA repeat expansions in the TBP gene. The research revealed an unexpected genetic interaction between STUB1 and TBP, providing crucial implications for the diagnosis and counseling of SCA17.

GENETICS IN MEDICINE (2022)

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Article Neurosciences

A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions

Marlen Colleen Reis et al.

Summary: Heterozygous pathogenic variants in the STUB1 gene have been identified as causes of autosomal dominant inherited spinocerebellar ataxia type 48. This study reports a severe early onset dementia syndrome caused by a specific variant in STUB1, which impairs splicing and results in a truncated protein. Additionally, repeat expansions in the TBP gene were also detected, suggesting a digenic background for the observed dementia syndrome.

FRONTIERS IN MOLECULAR NEUROSCIENCE (2022)

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Review Cell Biology

The emerging roles of long non-coding RNAs in polyglutamine diseases

Xiaoyu Dong et al.

Summary: Long non-coding RNAs (lncRNAs) play important roles in Polyglutamine (polyQ) diseases and are considered promising candidates for future non-invasive biomarkers.

JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2021)

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Article Clinical Neurology

A series of cases with Huntington-like phenotype and intermediate repeats in HTT

Antia Reguera Acuna et al.

Summary: This study reviewed 14 cases of Intermediate Alleles (IAs) in the HTT gene, most of which exhibited some form of extrapyramidal symptoms. Cognitive and/or behavioral symptoms were also common in these cases.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2021)

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Article Neurosciences