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A Pyramidal Cause of a Cerebellar Ataxia: HSP-7.


ABSTRACT: A 43-year-old man presented with a slowly progressive fatigue and coordination problems, coupled with a radiological appearance of diffuse atrophy, especially in the cerebellar hemispheres. The diagnostic process was challenging because initially the additional investigations were focused on a cerebellar ataxia. In the following months, his ataxic gait developed in a more spastic pattern and whole exome sequencing revealed mutations in the SPG7 gene, confirming a diagnosis of hereditary spastic paraplegia. Therefore, the authors call for an extension of genetic panels in ataxia patients.

SUBMITTER: Lagrand TJ 

PROVIDER: S-EPMC7590769 | biostudies-literature | 2020 Sep-Dec

REPOSITORIES: biostudies-literature

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A Pyramidal Cause of a Cerebellar Ataxia: HSP-7.

Lagrand Tjerk Joppe TJ   Hageman Gerard G  

Case reports in neurology 20200901 3


A 43-year-old man presented with a slowly progressive fatigue and coordination problems, coupled with a radiological appearance of diffuse atrophy, especially in the cerebellar hemispheres. The diagnostic process was challenging because initially the additional investigations were focused on a cerebellar ataxia. In the following months, his ataxic gait developed in a more spastic pattern and whole exome sequencing revealed mutations in the SPG7 gene, confirming a diagnosis of hereditary spastic  ...[more]

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