open access

Vol 54, No 4 (2020)
Short Communication
Submitted: 2020-03-20
Accepted: 2020-06-03
Published online: 2020-07-20
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Spinocerebellar ataxia type 6 family with phenotypic overlap with Multiple System Atrophy

Rana Hanna Al-Shaikh1, Anna I. Wernick1, Audrey J. Strongosky1, Alexandra I. Soto-Beasley1, Jay A. van Gerpen1, William P. Cheshire1, Ryan J. Uitti1, Owen A. Ross1, Zbigniew K. Wszolek1
·
Pubmed: 32687595
·
Neurol Neurochir Pol 2020;54(4):350-355.
Affiliations
  1. Mayo Clinic, Jacksonville, Florida, United States

open access

Vol 54, No 4 (2020)
Short communications
Submitted: 2020-03-20
Accepted: 2020-06-03
Published online: 2020-07-20

Abstract

Aim of the study. Multiple system atrophy (MSA) and spinocerebellar ataxia (SCA) share similar symptomatology. We describe a rare occurrence of familial MSA that proved to be SCA6 upon genetic analysis.

Materials and methods. Eighty MSA patients were enrolled in our study; blood samples were collected and genetic screening of the familial case for known SCA loci was performed.

Results. A 68-year-old woman presented with recurrent and severe episodes of light-headedness, imbalance, frequent falls, neck and lower back stiffness, subjective arm and leg weakness, and numbness and tingling in both feet. One year later, her condition had declined; she experienced more falls, worsening instability, again more generalised but still subjective weakness, impaired fine motor movements, slurred speech, difficulty swallowing, episodes of choking, bladder incontinence, and constipation. Clinical suspicion included parkinsonism, MSA, and SCA. The patient was enrolled in our MSA study and was found to have 22 and 12 CAG repeats in CACNA1A. The other 79 clinical MSA patients were negative for SCA6 screening.

Conclusions and clinical implications. While MSA and SCA may have similar presentations during early disease stages, the presence of both conditions on the list of differential diagnoses can be a diagnostic dilemma. Further analysis will aid in developing a biomarker to distinguish between the two conditions and guide proper management.

Abstract

Aim of the study. Multiple system atrophy (MSA) and spinocerebellar ataxia (SCA) share similar symptomatology. We describe a rare occurrence of familial MSA that proved to be SCA6 upon genetic analysis.

Materials and methods. Eighty MSA patients were enrolled in our study; blood samples were collected and genetic screening of the familial case for known SCA loci was performed.

Results. A 68-year-old woman presented with recurrent and severe episodes of light-headedness, imbalance, frequent falls, neck and lower back stiffness, subjective arm and leg weakness, and numbness and tingling in both feet. One year later, her condition had declined; she experienced more falls, worsening instability, again more generalised but still subjective weakness, impaired fine motor movements, slurred speech, difficulty swallowing, episodes of choking, bladder incontinence, and constipation. Clinical suspicion included parkinsonism, MSA, and SCA. The patient was enrolled in our MSA study and was found to have 22 and 12 CAG repeats in CACNA1A. The other 79 clinical MSA patients were negative for SCA6 screening.

Conclusions and clinical implications. While MSA and SCA may have similar presentations during early disease stages, the presence of both conditions on the list of differential diagnoses can be a diagnostic dilemma. Further analysis will aid in developing a biomarker to distinguish between the two conditions and guide proper management.

Get Citation

Keywords

cerebellum, gait disorders/ataxia, SCA, spinocerebellar ataxia

Supp./Additional Files (2)
Supplemental Figure 1. Sequential Sagittal T1 Flair Cranial Sections Using Magnetic Resonance Imaging Captured 4 Years Apart
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Supplemental Table 1. List of SCA genes screened in the familial proband
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About this article
Title

Spinocerebellar ataxia type 6 family with phenotypic overlap with Multiple System Atrophy

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 54, No 4 (2020)

Article type

Short Communication

Pages

350-355

Published online

2020-07-20

Page views

1425

Article views/downloads

645

DOI

10.5603/PJNNS.a2020.0053

Pubmed

32687595

Bibliographic record

Neurol Neurochir Pol 2020;54(4):350-355.

Keywords

cerebellum
gait disorders/ataxia
SCA
spinocerebellar ataxia

Authors

Rana Hanna Al-Shaikh
Anna I. Wernick
Audrey J. Strongosky
Alexandra I. Soto-Beasley
Jay A. van Gerpen
William P. Cheshire
Ryan J. Uitti
Owen A. Ross
Zbigniew K. Wszolek

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