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Article

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

Human mutation - 1 Apr 2010

Dick Katherine J, Eckhardt Matthias, Paisán-Ruiz Coro, Alshehhi Aisha Alkhayat, Proukakis Christos, Sibtain Naomi A, Maier Helena, Sharifi Reza, Patton Michael A, Bashir Wafa, Koul Roshan, Raeburn Sandy, Gieselmann Volkmar, Houlden Henry, Crosby Andrew H

Abstract excerpt

Hereditary spastic paraplegia (HSP) describes a heterogeneous group of inherited neurodegenerative disorders in which the cardinal pathological feature is upper motor neurone degeneration leading to progressive spasticity and weakness of the lower limbs. Using samples from a large Omani family we...

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PMID: 20104589
DOI: 10.1002/humu.21205

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20104589-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).PMID 20104589Read ↗

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