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Article

CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2016

Kariminejad A, Schöls L, Schüle R, Tonekaboni S H, Abolhassani A, Fadaee M, Rosti R O, Gleeson J G

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a heterogeneous condition characterized by progressive spasticity and weakness in the lower limbs. It is divided into two major groups, complicated and uncomplicated, based on the presence of additional features such as intellectual disability, ataxia, seizures, peripheral neuropathy and visual problems. SPG56 is an autosomal recessive form of HSP with complicated and...

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Identifiers

PMID: 27292318
DOI: 10.1016/j.ejpn.2016.05.013
PMCID: PMC5011458

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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