Ears of the Lynx on Neuroimaging in a Patient with COQ4-Associated Hereditary Spastic Paraplegia.

Mov Disord Clin Pract

Department of Neurology, The First Medical Centre, Chinese PLA General Hospital, Beijing, China.

Published: November 2024

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http://dx.doi.org/10.1002/mdc3.14282DOI Listing

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Hereditary spastic paraplegias represent a rare set of monogenic disorders encompassing 79 distinct genetic variations. The principal culprit behind recessive hereditary spastic paraplegia is frequently attributed to mutations in the spastic paraplegia gene, particularly type 11, closely followed by type 15. This category is typically characterized by nonspecific clinical features, including cognitive decline, which may precede the development of progressive lower limb weakness and spasticity.

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