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A Pyramidal Cause of a Cerebellar Ataxia: HSP-7
Tjerk Joppe Lagrand1, Gerard Hageman2
1Department of Neurology, University Medical Centre Groningen, Groningen, The Netherlands.
Case Reports in Neurology
|November 11, 2020
Summary
Hereditary spastic paraplegia (HSP) can initially mimic cerebellar ataxia. Whole exome sequencing identified SPG7 gene mutations, highlighting the need for broader genetic testing in ataxia patients.
Area of Science:
- Neurology
- Genetics
- Neuroscience
Background:
- Cerebellar ataxia and hereditary spastic paraplegia (HSP) are progressive neurological disorders.
- Differentiating between these conditions can be diagnostically challenging due to overlapping symptoms.
Observation:
- A 43-year-old male presented with fatigue and coordination issues, initially suspected as cerebellar ataxia.
- Radiological findings showed diffuse atrophy, particularly in the cerebellar hemispheres.
- The patient's gait progressively shifted from ataxic to a more spastic pattern.
Findings:
- Whole exome sequencing revealed mutations in the SPG7 gene.
- This genetic finding confirmed a diagnosis of hereditary spastic paraplegia (HSP).
Implications:
- The case underscores the importance of considering HSP in patients with apparent cerebellar ataxia.
- It suggests extending genetic testing panels for ataxia to include genes associated with HSP, such as SPG7.
- Accurate genetic diagnosis is crucial for understanding disease mechanisms and potential therapeutic strategies.
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