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Article

Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families.

BMC neurology - 20 Sept 2024

Azeem Arfa, Ahmed Asif Naveed, Khan Niamat, Voutsina Nikol, Ullah Irfan, Ubeyratna Nishanka, Yasin Muhammad, Baple Emma L, Crosby Andrew H, Rawlins Lettie E, Saleha Shamim

Abstract excerpt

BACKGROUND: Hereditary Spastic Paraplegias (HSPs) and Hereditary Cerebellar Ataxias (HCAs) are progressive neurodegenerative disorders encompassing a spectrum of neurogenetic conditions with significant overlaps of clinical features. Spastic ataxias are a group of conditions that have features of both cerebellar ataxia and spasticity, and these conditions are frequently clinically challenging to distinguish....

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Identifiers

PMID: 39304850
DOI: 10.1186/s12883-024-03855-1
PMCID: PMC11414091

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