Peripheral neuropathy in CADASIL.
BACKGROUND
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a hereditary cerebral microangiopathy associated with mutations in the Notch 3 gene. The clinical phenotype is characterized by cerebral impairment even though typical microvascular changes are diffuse.


OBJECTIVE
To assess peripheral neuropathy in patients with CADASIL.


METHODS
We enrolled eleven CADASIL patients with variable phenotype including clinical signs of peripheral nerve involvement. In all patients electromyography and nerve conduction velocities were performed. Peripheral nerve biopsy was performed in three cases.


RESULTS
We found sensory motor neuropathy in 7/11 patients. Nerve biopsy revealed axonal and demyelinated findings.


CONCLUSIONS
Our findings suggest that peripheral neuropathy may be part of the CADASIL phenotype.
Sicurelli
Francesco
F
Dept. of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy.
Dotti
Maria Teresa
MT
De Stefano
Nicola
N
Malandrini
Alessandro
A
Mondelli
Mauro
M
Bianchi
Silvia
S
Federico
Antonio
A
D000200:Action Potentials; D000328:Adult; D000368:Aged; D001369:Axons / Q000473:pathology; D001706:Biopsy; D046589:CADASIL / Q000175:diagnosis / Q000473:pathology*; D016022:Case-Control Studies; D004576:Electromyography; D004594:Electrophysiology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000294:innervation; D009186:Myelin Sheath / Q000473:pathology; D009412:Nerve Fibers / Q000473:pathology; D009431:Neural Conduction; D010523:Peripheral Nervous System Diseases / Q000473:pathology* / Q000503:physiopathology / Q000601:surgery; D010641:Phenotype; D011446:Prospective Studies; D013497:Sural Nerve / Q000473:pathology / Q000502:physiology / Q000601:surgery