Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability.

Ettore CioffiValeria GioiosaAlessandra TessaAntonio PetrucciRosanna TrovatoFilippo Maria SantorelliCarlo Casali

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2024)

Clinicians need to be aware that patients with HSP may show ALS signs and symptoms. On the other hand, HSP panels must be included in genetic testing methods for instances of familial ALS.

Keyphrases

end stage renal disease
heat shock protein
newly diagnosed
ejection fraction
heat stress
heat shock
copy number
peritoneal dialysis
prognostic factors
palliative care
amyotrophic lateral sclerosis
genome wide
oxidative stress
patient reported outcomes
cerebral palsy