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Article

Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia.

BMC neurology - 14 Dec 2019

Klimkowicz-Mrowiec Aleksandra, Dziubek Anna, Sado Malgorzata, Karpiński Marek, Gorzkowska Agnieszka

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia is a large group of degenerative, neurological disorders characterized by progressive lower limb spasticity and weakness. The disease was investigated precisely but still clinicians often make incorrect or late diagnosis. Our aim was to investigate the genetic background and clinical phenotype of spastic paraplegia in large Polish family. CASE PRESENTATION: A 37 years old...

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Identifiers

PMID: 31837705
DOI: 10.1186/s12883-019-1561-6
PMCID: PMC6911268

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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