Jorge Vega Abascal

Spinocerebellar ataxia type 2 in The Gambia: A case report

A 40-year-old black male from Busumbala village, in suburban Gambia, presented to the Medicine Out Patient Department of our Teaching Hospital in the company of two of his brothers, with a history of gait and speech problems, and resting tremor of the head and hands. These abnormalities were of gradual onset with a slowly progressive course. Clinical manifestations of neurologic disease began about ten years ago. There were no histories of head trauma, encephalitis or drug intake. A brain scan showed no abnormalities apart from cerebellar atrophy. The index case was subjected to further clinical and genetic characterization. The study protocol was approved by the Research and Publication Committee at the School of Medicine, and the informed consent was obtained from the patient. The family history showed that the index case (II-6) had an older brother (II-3) who suffered from similar condition to that of the index case (Fig. 1). This brother had five children as a result of two different marriages; so far, one of his three daughters is also affected (III-4). In addition, the index case has a half-brother who is also affected (II-9). As the common ancestor to all of them is the index case father (I-2), it is therefore assumed that the father is the founder of this condition in the family, even though he died older than 70 years of age with no neurological problem. Genetic anticipation was apparent in the family, where individual III-4 became sick 23 years earlier than her father (II3) did, and about 15 years earlier than her uncles (II-6 and II-9).

First case with Huntington's disease in The Gambia

A 52-year old black male from the Greater Banjul Area presented to the Medicine Out Patient Department in the company of his son, with a history of abnormal movements of limbs and face. These abnormal movements were of gradual onset with progressive course. Clinical manifestations of neurologic disease began about six years ago. Initial symptoms included weakness in the lower limbs, cramps and involuntary movement of head, trunk and limbs. There was no history of drug intake such as neuroleptics, levodopa, phenytoin or cocaine. Moreover, there was no history of systemic conditions such as systemic lupus erythematosus (SLE), hyperglycemia, AIDS, thyrotoxicosis, polycythemia vera or paraneoplastic syndrome, neither pointers towards Sydenhams chorea or Wilsons disease. By interviewing the affected patient and close relatives it was possible to establish family records for the patients condition (Fig. 1A). Actually, the index case (III-7) had an older sister (III-1) who died with a similar condition to that of the index case. However, no further clues