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Article

An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Sept 2023

Pereira Ângela, Tkachenko Nataliya, Fortuna Ana Maria, Alonso Isabel, Cardoso Márcio, Da Silva Jorge Diogo

Abstract excerpt

BACKGROUND: Progressive muscular atrophy (PMA) is a rare adult-onset neurological disease that is characterized by isolated lower motor neuron degeneration. While it is still disputable whether PMA is a subtype of amyotrophic lateral sclerosis (ALS) or an isolated disorder, it is well-established as a clinically defined entity. About 5% of PMA cases are monogenic, and the implicated genes largely overlap with...

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Identifiers

PMID: 37213040
DOI: 10.1007/s10072-023-06867-w

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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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