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Peripheral neuropathy in CADASIL
Francesco Sicurelli1, Maria Teresa Dotti, Nicola De Stefano
1Dept. of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy.
Journal of Neurology
|April 14, 2005
Summary
Peripheral neuropathy is common in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). This study found sensory motor neuropathy in most CADASIL patients, suggesting it
Area of Science:
- Neurology
- Genetics
- Microangiopathy Research
Background:
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a genetic microangiopathy linked to Notch 3 gene mutations.
- The condition typically presents with cerebral impairment, despite diffuse microvascular changes.
Observation:
- This study investigated peripheral neuropathy in eleven patients diagnosed with CADASIL.
- Patients exhibited varying phenotypes, including clinical indicators of peripheral nerve involvement.
Findings:
- Electromyography and nerve conduction velocity tests were conducted on all participants.
- Peripheral nerve biopsies in three patients revealed axonal and demyelinating abnormalities.
- Sensory motor neuropathy was identified in 7 out of 11 CADASIL patients.
Implications:
- Peripheral neuropathy may represent an underrecognized component of the CADASIL clinical spectrum.
- These findings broaden the understanding of CADASIL's systemic effects beyond the central nervous system.
- Further research is warranted to explore the mechanisms and clinical significance of neuropathy in CADASIL.