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Article

Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.

Journal of the neurological sciences - 15 May 2016

Balicza Peter, Grosz Zoltan, Gonzalez Michael A, Bencsik Renata, Pentelenyi Klara, Gal Aniko, Varga Edina, Klivenyi Peter, Koller Julia, Züchner Stephan, Molnar Judit Maria

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases with progressive lower limb spasticity and weakness. The aim of this study is to determine the frequency of different SPG mutations in Hungarian patients, and to provide further genotype-phenotype correlations for the known HSP causing genes. METHODS: We carried out genetic testing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27084228
DOI: 10.1016/j.jns.2016.03.018

Genes

ATL1
SPAST
SPG7
ABCD1
NIPA1
SPG11

Variants

Provenance

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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