J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.40.7.687 on 1 July 1977. Downloaded from Journal ofNeurology, Neurosurgery, andPsychiatry, 1977, 40, 687-691 Hereditary chorea without dementia PETER 0. BEHAN AND IAN BONE From the Glasgow University Departnent of Neuirology, Institute of Neurological Sciences, Southern General Hospital, Glasgow SUMMARY We describe here a distinct syndrome of chorea without dementia, occurring in three generations of a family and inherited as a mendelian dominant. The causes of chorea occurring in childhood or or tic secondary to some psychological abnor- in early adult life include inherited, metabolic, mality (Markham and Knox, 1965). endocrine, infectious, or psychological diseases. There are very rare reports in the literature of The classical inherited disease of which chorea is familial chorea occurring without dementia the main symptom is Huntington's chorea, the (Velander, 1931; Haerer et al., 1967; Pincus and inheritance following a mendelian dominant pat- Chutorian, 1967; Nutting et al., 1969; Sadjadpour tern. When this disorder presents in adults, chorea and Amato, 1973). In these cases the onset was is almost always a prominent feature, but it is usually in early childhood and the course benign Protected by copyright. found only rarely when the disease begins in without intellectual impairment. In one instance, childhood (Wilson, 1968). Huntington's chorea is the chorea improved as the patient became older progressive and associated with intellectual (Sadjadpour and Amato, 1973). deterioration. Other inherited conditions of which We report here a family in which chorea has chorea may be a feature include Tay-Sach's occurred in three generations. The disease has disease (Markham and Knox, 1965), hepatolenticu- had a benign course in the first two generations lar degeneration (Wilson, 1912). the Lesch-Nyhan and in one member of the third generation, but syndrome (Lesch and Nyhan, 1964), and the in the propositus the chorea is severe and pro- Hallervorden-Spatz syndrome (Hallervorden and gressive. In all generations, however, there is no Spatz, 1922). associated intellectual impairment. Chorea may be a manifestation of rheumatic fever (Aron et al., 1965). It has also been described Case report in a variety of diseases including polycythaemia rubra vera (Gautier-Smith and Prankerd, 1967), TW (Unit No. 602070) was a 20 year old, right thyrotoxicosis (Fidler et al., 1971), subacute handed, male salesman. At the age of 3 years http://jnnp.bmj.com/ thyroiditis (Cohn et al., 1971), and idiopathic involuntary movements involving his face and hypoparathyroidism (Simpson, 1952; McKinney, limbs were noted by his parents. These movements 1962). It can occur in patients taking phenothia- were not progressive until the age of 12 years zines (Singer and Wong, 1970), oral contraceptives when he began making loud, involuntary, grunting (Riddoch et al., 1971), or alcohol (Mullin et al., noises. At the age of 18 years he sustained a minor 1970). Chorea has also been found in liver head injury after a road traffic accident, and from disease (Victor et al., 1965; Toghill et al., 1967), this date became aware of a gradual increase in after infections including diphtheria (Critchley, the severity of his movements, particularly those on September 26, 2021 by guest. 1924), or as a manifestation of syphilis (Munzer, of his face, to such a degree that he was too 1935). It has been described as a complication of embarrassed to go out in public other than to kernicterus (Fitzgerald et al., 1939), and of vascu- carry on his work. His gait, however, remained lar diseases of the basal ganglia (Mitchell, 1874). unaffected. Chorea has also been found in atrophy of the The patient's development was normal. He globus pallidus (Hunt, 1917), and as a habit spasm walked at 14 months and was described as of above average intelligence throughout his school- Address for reprint requests: Dr P. 0. Behan. Department of Neuro- logy, Institute of Neurological Sciences, Southern General Hospital, ing, obtaining 0 level passes before leaving at the Glasgow G51 4TF, Scotland. age of 16 years to take up employment as a Accepted 14 January 1977 salesman. At school and at work he was frequently 687 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.40.7.687 on 1 July 1977. Downloaded from 688 Peter 0. Behan and Ian Bolne teased because of his movements, but his work record was good. He had no serious illnesses or 61 yrs.| operations. In July 1974 he was admitted to the Institute of Neurological Sciences for evaluation. Examination at that time revealed an alert young man of slim build, with purposeless, con- tinual movements of his face, hands, and arms. He 49 yrs.| grimaced, continually protruded his tongue, and showed coarse, irregular, side-to-side jerking of his head. Apart from these classical chorei- form movements the rest of the neurological examination including neuro-ophthalmological examination, was entirely normal. 20 14 12 yrs. INVESTIGATI ONS Full blood count was normal, and the ESR was Affected Affected 7 mm per hour. Urine analysis, blood urea and Male e Female electrolytes, serum calcium, phosphate, alkaline Figure Pedigree chart of inherited chorea without phosphatase, copper oxidase, magnesium and lipo- dementia protein levels were normal. Wassermann reaction and VDRL tests were negative. Urine amino-acid 12 years, has had involuntary movements of the chromatography revealed a normal pattern. face and upper limbs for approximately one year. Thyroid function studies were within normal The patient's mother (aged 46 years) has had in- Protected by copyright. limits. Radiographs of the chest and skull, to- voluntary movements of the face since childhood: gether with an electroencephalogram repeated on these have, if anything, become less marked over several occasions, were normal. Lumbar pneumo- the years. The brother and the mother were ex- encephalography suggested a mild degree of dila- amined by us and choreiform movements were tation of the lateral ventricles only; cerebrospinal noted. These were of the same type as the propo- fluid examined at this procedure showed a total situs but much less marked. It was also noted protein of 0.5 g/l, with a gamma globulin of 0.03 that both had good personalities and appeared to g/l. Slit lamp examination of the eyes was normal. be of normal intelligence as judged by conversa- A formal psychological assessment was under- tion at several interviews. The patient's uncle, taken which showed no abnormalities, the IQ on last seen by the family two years ago when aged the Wechsler Intelligence Scale being reported as 47 years, has had involuntary movements of the 100. This test was repeated one year later and face and limbs for most of his life, with the showed no change. severity of the movements becoming progressively less with age. His whereabouts at present are un- CLINICAL COURSE known and, therefore, he was not examined. The The patient had been on no drug therapy before patient's grandfather apparently had involuntary http://jnnp.bmj.com/ admission. He was initially treated with tetra- movements of his face and limbs but his benazine 25 mg three times daily which was in- daughter's recollection of these was that they be- creased to 25 mg four times daily. This failed to came more obvious until shortly before his death induce any remission in his symptoms. The treat- at the age of 61 years. He had no intellectual ment was changed to thiopropazate 5 mg four deterioration and remained at his work as a times daily. After four months this treatment was London policeman until his death. Clearly, the stopped because his symptoms had not improved. choreiform movements, while noticeable to his Since then he has been treated for two months family, were not sufficient to prevent him from on September 26, 2021 by guest. with deanol which resulted in no improvement, carrying out his duties. and has also had clonazepam 1 mg twice daily for three months with no effect. He feels that Disctission within the last year there has been a slow progres- sion in his illness. We have documented here a family in which chorea without dementia occurred in three genera- FAMILY HISTORY tions. The commonest cause of inherited chorea is TW is one of three siblings (Figure). His 14 year Huntington's disease, and in a recent survey it old sister is asymptomatic but his brother, aged has been suggested that about 1%/,, of all cases of J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.40.7.687 on 1 July 1977. Downloaded from Hereditary chorea without dementia 689 this disorder may occur in early childhood (Jervis, encephalograms in childhood cases studied by 1963). The syndrome described here is clearly Jervis (1963) were abnormal as are the electro- distinguishable from Huntington's chorea for a encephalographic results in adult Huntington's variety of reasons. chorea (Foster and Bagchi, 1949). The rate of pro- Huntington's chorea is very rare in the first gression of all symptoms is greater in the child- 10 years of life. The mean age of onset of the hood form than it is in the adult (Markham and disease has been calculated to be 44 years of age Knox, 1965; Myrianthopoulos, 1969). with a standard deviation of about 11 years. Our patient's illness clearly differs from the Jervis (1963) in a study of the literature on 2394 childhood variety of Huntington's chorea. Nor is cases found seven occurring before the age of 5 it similar to the other forms of chorea which may years and 13 between the ages of 6 and 10 years. occur in childhood-for example, Sydenham's or The clinical manifestation of the disorder in child- rheumatic chorea.