Basal ganglia diseases

Clinical data indicate that the major deficits in neurological cretinism are intellectual deficiency, deafness, and motor rigidity, and indicate that the parts of the nervous system most affected are the cerebral neocortex, the cochlea, and the basal ganglia. The findings implicating basal ganglia disease have generally received little attention. 

Debs, R., Depienne, C., Rastetter, A., Bellanger, A., Degos, B., Galanaud, D., Keren, B., Lyon-Caen, O., Brice, A., and Sedel, F., 2010. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Archives of Neurology. 67 126-130. 

Nashold, Bl. S. Jr. and Kirshner, N., The metabolism of adrenalin and nor-adrenalin in patients with basal ganglia disease, Neurol. 13, 753 (1963). 

Ozand PT, Gascon GG, and A1 Essa M. Biotin-responsive basal ganglia disease A novel entity. Brain 121 1267-1279 (1998). 

El-Hajj Tl, Karam PE, and Mikati MA. Biotin-responsive basal ganglia disease Case report and review of literature. Neuropediatrics 39 268-271 (2008). 

Ozand and collaborators described several patients in Saudi Arabia with biotin-responsive basal ganglia disease. Symptoms include confusion, lethargy, vomiting, seizures, dystonia, dysarthria, dysphagia, seventh nerve paralysis, quadriparesis, ataxia, hypertension, chorea. 

Curtis, A. R. Fey, C. Morris, C. M. et al. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat. Genet. 2001,28,350-354. 

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