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J Neurol Neurosurg Psychiatry doi:10.1136/jnnp-2012-303960
  • Cerebrovascular disease
  • Research paper

Abnormal sensorimotor plasticity in CADASIL correlates with neuropsychological impairment

  1. Pablo Mir1,2
  1. 1Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain
  2. 2Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Seville, Spain
  3. 3Unidad de Demencias, Servicio de Neurología y Neurofisiología Clínica, Hospital Universitario Virgen del Rocío, Seville, Spain
  1. Correspondence to Dr Pablo Mir, Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Hospital Universitario Virgen del Rocío, Avda. Manuel Siurot sn., Sevilla 41013, Spain; pablo.mir.sspa{at}juntadeandalucia.es
  • Received 17 August 2012
  • Revised 4 December 2012
  • Accepted 12 December 2012
  • Published Online First 10 January 2013

Abstract

Objective Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a small vessel disease of the brain caused by mutations in the NOTCH3 gene. CADASIL progresses, in some cases, to subcortical dementia with a particular cognitive impairment. Different diseases in the dementia spectrum share a central cholinergic and sensorimotor plasticity alteration. We aimed to study different intracortical circuits and sensorimotor plasticity in CADASIL patients using transcranial magnetic stimulation protocols, and to determine whether these characteristics correlated with the results of clinical neuropsychological evaluation.

Methods Ten CADASIL patients and 10 healthy subjects were included in the study. All subjects underwent a transcranial magnetic stimulation study examining different intracortical circuits. Sensorimotor plasticity was also assessed using a paired associative stimulation and extensive neuropsychological tests.

Results CADASIL patients showed a lack of intracortical facilitation, short latency afferent inhibition and sensorimotor plasticity when compared with control subjects. CADASIL patients also showed an altered neuropsychological profile. Correlation between sensorimotor plasticity and neuropsychological alterations was observed in CADASIL patients.

Conclusions These results suggest that acetylcholine and glutamate could be involved in the dementia process in CADASIL and that abnormal sensorimotor plasticity correlates with the neuropsychological profile in CADASIL patients.

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