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Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families.

Journal of neurogenetics - 1 Jan 2000

Pashaei Mahdieh, Davarzani Atefeh, Hajati Reza, Zamani Babak, Nafissi Shahriar, Larti Farzaneh, Nilipour Yalda, Rohani Mohammad, Alavi Afagh

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous neurodegenerative disorder, characterized by lower-limb spasticity and weakness. To date, more than 82 loci/genes (SPG1-SPG82) have been identified that contribute to the cause of HSP. Despite the use of next-generation sequencing-based methods, genetic-analysis has failed in the finding of causative genes in more than 50% of HSP...

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PMID: 33771085
DOI: 10.1080/01677063.2021.1895146

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