Juvenile Huntington's chorea

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Abstract
A 14-year-old girl with Huntington''s chorea and her 2 brothers and sister were carefully studied. Clinical evaluation, including speech examination, was followed by EEG and neuropsychological testing. The patient and her older brother showed involuntary movements, evidence of mental deterioration, and speech abnormalities. The patient had moderately severe oculomotor apraxia and generalized muscle rigidity. Neurological examination of the patient''s younger brother and of her sister was essentially normal. The absence of normal alpha activity and the presence of low-voltage, fast background activity were clearly seen in the eegs of the patient and her older brother. The younger brother showed the presence of 4- to 7-cps activity in widespread head regions, while the eeg recording of the sister was normal. Eeg abnormalities, particularly suppression of the alpha activity, are consistently seen in affected individuals. However, no reliable eeg criteria are available at the present time for predicting the occurrence of the disease in the siblings of an affected individual. Tests of adaptive abilities and of simple motor-sensory functions are helpful in distinguishing early in the disease the siblings with mild impairment from those who are apparently unaffected. Specific abnormal patterns were seen in the test results of the patient and her older brother. The younger brother showed no impairment, and the sister showed impairment that appeared to be of long standing and that was unrelated to that shown by the patient and her older brother. There may be significant, detectable changes in abstraction and problem-solving abilities and in simple motor-sensory functions which occur well in advance of psychometric deterioration. A review of the clinical features of 18 cases of juvenile Huntington''s chorea drawn from the Anglo-American literature together with our 2 cases showed choreo-athetosis in 80%, rigidity in 65%, cerebellar dysfunction in 50%, dyslalia in 90%, mental deterioration in 85%, seizures in 35%, and oculomotor apraxia in 15%.

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