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A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia.

1997; BMJ; Volume: 62; Issue: 4 Linguagem: Inglês

10.1136/jnnp.62.4.420

1468-330X

Katrin Beyer, José Ignacio Lao-Villadóniga, B Vecino-Bilbao, Ramón Cacabelos, Raäl de la Fuente-Fernández.,

Neurological and metabolic disorders

study is a result of a sampling bias.The patients in this study represent a series of admissions to a rehabilitation unit-where the referral of patients with right hemi- spheric lesions is most common when it involves the obvious and remediable signs of left hemiparesis and hemispatial neglect.It is likely that those such as the patient of Solms et al,7 whose bilateral frontal pathology was largely asymptomatic in the standard neuro- logical and neuropsychological examination, would never have been admitted to the unit.