Open AccessNovel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease
Author(s) -
GonzalezQuereda Lidia,
Pagola Inmaculada,
Fuentes Prior Pablo,
Bernal Sara,
Rodriguez Maria Jose,
Torné Laura,
Salgado Garrido Josefa,
Gallano Pia,
Jericó Ivonne
Publication year - 2021
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51265
Subject(s) - motor neuron , medicine , spinal muscular atrophy , lower motor neuron , mutation , gene , disease , genetics , neuron , atrophy , neuromuscular disease , neuroscience , bioinformatics , pathology , biology , psychiatry
The PLEKHG5 gene encodes a protein that activates the nuclear factor kappa B (NFκB) signaling pathway. Mutations in this gene have been associated with distal spinal muscular atrophy IV and intermediate axonal neuropathy C, both with an autosomal recessive mode of inheritance. Two families with low motor neuron disease (LMND) caused by mutations in PLEKHG5 have been reported to date. We present a third LMND family, the first nonconsanguineous, due to two not previously reported PLEKHG5 mutations. Our results confirm and extend previous findings linking PLEKHG5 mutations to lower motor neuron diseases.