Article

Midbrain Atrophy Related to Parkinsonism in a Non-Coding Repeat Expansion Disorder: Five Cases of Spinocerebellar Ataxia Type 31 With Nigrostriatal Dopaminergic Dysfunction

2021-01-07

Abstract excerpt

<title>Abstract</title> <p>BackgroundSpinocerebellar ataxia type 31 (SCA31) is caused by non-coding pentanucleotide repeat expansions in the <italic>BEAN1</italic> gene. Clinically, SCA31 is characterized by late-adult onset, pure cerebellar ataxia. To explore the association between parkinsonism and SCA31, five patients with SCA31 with concomitant nigrostriatal dopaminergic dysfunction (NSDD) development, includ...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d01145f3-b080-5456-bc19-bea935d5a3ce
DOI: 10.21203/rs.3.rs-139248/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Midbrain Atrophy Related to Parkinsonism in a Non-Coding Repeat Expansion Disorder: Five Cases of Spinocerebellar Ataxia Type 31 With Nigrostriatal Dopaminergic DysfunctionDOI 10.21203/rs.3.rs-139248/v1Read

Midbrain atrophy related to parkinsonism in a non-coding repeat expansion disorder: five cases of spinocerebellar ataxia type 31 with nigrostriatal dopaminergic dysfunctionSemantic proximity Read

Levodopa responsive parkinsonism in Spinocerebellar ataxia 27BSemantic proximity Read

Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson DiseaseSemantic proximity Read

Differential value of brain magnetic resonance imaging in multiple system atrophy cerebellar phenotype and spinocerebellar ataxias.Semantic proximity Read

Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: Genetic, clinical, and positron emission tomography findingsSemantic proximity Read

Differential diagnosis of parkinsonian degenerative disorders in combination manual measurements with automated volumetry of the brainSemantic proximity Read

A Fully Automated, Atlas-Based Approach for Superior Cerebellar Peduncle Evaluation in Progressive Supranuclear Palsy Phenotypes.Semantic proximity Read

Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6.Semantic proximity Read

Dopa-responsive parkinsonism phenotype of spinocerebellar ataxia type 2.Semantic proximity Read

Commentary on: Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism, by D. Williams, R. de Silva, D. Paviour, et al. (Brain-2004-01045.R1).Semantic proximity Read

Cerebral Peduncle Angle: An Objective Criterion for Assessing Progressive Supranuclear Palsy Richardson Syndrome.Semantic proximity Read