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Article

NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup.

BMC medical genetics - 21 Mar 2017

Elsaid Mahmoud F, Ibrahim Khalid, Chalhoub Nader, Elsotouhy Ahmed, El Mudehki Noora, Abdel Aleem Alice

Abstract excerpt

BACKGROUND: Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative diseases. Thin Corpus Callosum (TCC) associated HSP is a distinguished subgroup of complex forms. Purines and pyrimidine, the basic DNA and RNA components, are regulating the cell metabolism, having roles in signal transduction, energy preservation and cellular repair. Genetic defects in nucleotide metabolism...

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Identifiers

PMID: 28327087
DOI: 10.1186/s12881-017-0395-6
PMCID: PMC5359868

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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