TY - JOUR
T1 - Spinocerebellar ataxia type 6 family with phenotypic overlap with Multiple System Atrophy
AU - Al-Shaikh, Rana Hanna
AU - Wernick, Anna I.
AU - Strongosky, Audrey J.
AU - Soto-Beasley, Alexandra I.
AU - Van Gerpen, Jay A.
AU - Cheshire, William P.
AU - Uitti, Ryan J.
AU - Ross, Owen A.
AU - Wszolek, Zbigniew K.
N1 - Publisher Copyright:
© 2020 Urban and Partner. All rights reserved.
PY - 2020/8/31
Y1 - 2020/8/31
N2 - 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.
AB - 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.
KW - Cerebellum
KW - Gait disorders/ataxia
KW - SCA
KW - Spinocerebellar ataxia
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U2 - 10.5603/PJNNS.a2020.0053
DO - 10.5603/PJNNS.a2020.0053
M3 - Article
C2 - 32687595
AN - SCOPUS:85090250852
SN - 0028-3843
VL - 54
SP - 350
EP - 355
JO - Neurologia i neurochirurgia polska
JF - Neurologia i neurochirurgia polska
IS - 4
ER -