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 CasaliPublished 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
- ejection fraction
- chronic kidney disease
- newly diagnosed
- heat shock
- heat stress
- copy number
- peritoneal dialysis
- amyotrophic lateral sclerosis
- palliative care
- early onset
- gene expression
- oxidative stress
- dna methylation
- cerebral palsy
- depressive symptoms
- physical activity
- botulinum toxin
- upper limb
- patient reported