1.
Int J Rheum Dis
; 27(1): e15039, 2024 Jan.
Artículo
en Inglés
| MEDLINE
| ID: mdl-38287549
2.
3.
J Clin Neurol
; 10(2): 166-70, 2014 Apr.
Artículo
en Inglés
| MEDLINE
| ID: mdl-24829604
RESUMEN
BACKGROUND: Inclusion-body myopathy with Paget's disease of the bone and frontotemporal dementia (IBMPFD) is a rare, late-onset autosomal disorder arising from missense mutations in a gene coding for valosin-containing protein. CASE REPORT: We report the case of a man carrying the previously described p.Arg159His mutation, who had an unusual axonal sensorimotor neuropathy as the first clinical manifestation of IBMPFD, and for whom diagnosis only became clear 8 years later when the patient developed frontotemporal dementia. CONCLUSIONS: Peripheral neuropathy is a rare manifestation of IBMPFD. This underdiagnosed disorder should be considered when a patient develops dementia or has signs of Paget's disease.