Fourth International Symposium on Neuroacanthocytosis

Abstracts from the Fourth International Symposium on Neuroacanthocytosis

July 1-2, 2008
London and Oxford

Chairs: Prof. Kailash Bhatia, MD, FRCP, Institute of Neurology, University College London; Prof. Anthony P. Monaco, MD, PhD, Wellcome Trust Centre for Human Genetics, University of Oxford

Organizers: Antonio Velayos-Baeza, PhD; Susanne Schneider, MD; Glenn Irvine

2-1 Drug therapies including botulinum toxin
S. A. Schneider
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London WC1N 3BG, UK

Neuroacanthocytosis is a neurodegenerative disease due to mutations of the VPS13A (Chorein) gene on chromosome 9q21. The condition is characterized by hyperkinetic movements of chorea and dystonia with prominent orofacial involvement and self mutilation, tics, parkinsonism, eye movement abnormalities suggestive of brain stem involvement, subcortical dementia and psychiatric features with impairment of frontal lobe function with age of onset in mid-life. Seizures, autonomic features, as well as myopathy and neuropathy may also be present. Treatment remains symptomatic. With respect to movements, chorea may respond to tetrabenazine or atypical neuroleptics, however, the former may worsen a co-existing depression. Dystonia may respond to anticholinergics. Focal dystonias, e.g. of the oromandibular region, can be treated with botulinum toxin injections. Parkinsonian features may respond to dopaminergic drugs and gait problems to amantadine. Deep brain stimulation has been explored in individual cases with mixed results. In later disease stages, patients may require a PEG, or suprapubic catheter. Speech therapy, physiotherapy and psychological therapy should also be offered to the patient when needed.