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Early onset disease, anarthria, areflexia, and dystonia can be the distinctive features of SPG64, a very rare form of hereditary spastic paraplegias.

American journal of medical genetics. Part A - 1 Sept 2022

Ölmez Akgün, Çetin Gökhan Ozan, Karaer Kadri

Abstract excerpt

Hereditary spastic paraplegias (HSP) are a group of inherited, neurodegenerative disorders characterized by progressive gait impairment, lower extremity spasticity and increased patellar reflexes. More than 80 types of HSP have been defined to date. In complicated forms, lower limb spasticity and gait impairment is accompanied by an additional neurological finding. Autosomal recessive (AR) HSPs are usually...

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PMID: 35758610
DOI: 10.1002/ajmg.a.62878

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