(1) Dept. of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy;(2) EMG Service ASL 7, Siena, Italy
Abstract:
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.
Patients and 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.
Conclusion
Our findings suggest that peripheral neuropathy may be part of the CADASIL phenotype.