Huntington’s disease
by Kalyan B Bhattacharyya, Kalyan Satish V

Atlas of Neurology—A Case-based Approach

by Satish V Khadilkar, Kalyan B Bhattacharyya
About Video

All the video clips show some common features namely, choreiform movements in various parts of the body in middle aged subjects, inability to keep the protruded tongue in sustained posture (Jack in the Box sign), failure to sustain raised upper limbs (motor impersistence), and eyebrow raising sign. The movements are slow, non-repetitive, quasi-purposive, arrhythmic, and jerky, attesting chorea. The Mini Mental Scale of Folstein showed cognitive impairment and all the cases were sporadic. Apart from being sporadic, the condition is transmitted as autosomal dominant trait and the gene is located on 4p chromosome and this is the first neurological disease, whose genetic locus was established by, Gusella et al in 1983. The genetic product is known as huntingtin, and it is a triplet repeat disorder comprising in cytosine, arginine, and guanine and repeat lengths higher than 39 is considered risky. Paternal transmission carries worse prognosis and genetic anticipation is known to occur. The highest cluster of the disease is is found in the vicinity of the Lake Maracaibo of Venezuela in South America.

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