PROGRESSIVE FAMILIAL CHOREOATHETOSIS WITH CUTANEOUS TELANGIECTASIA

Progressive familial choreoathetosis with cutaneous telangiectasia.

familial paroxysmal kinesigenic choreoathetosis

a 14-year old boy was presented with q rare form ofmovement-induced drop attacks, which was also present in his father. 17jis case was, therefore, labeled as familial paroxysmal kinesigenic choreoathetosis.

Familial dystonic choreoathetosis with myokymia; a sleep responsive disorder.

A family is presented with paroxysmal dystonic choreoathetosis transmitted as a dominant trait over five generations. The family is unusual in the marked responsiveness of the episodes to short periods of sleep in several members, in the very variable age of onset, and in the association with prominent myokymia in some cases. These overlap features suggest a link between paroxysmal dystonic cho...

Familial Ataxia-telangiectasia.

A familial syndrome of progressive cerebellar ataxia and choreoathetosis, associated with oculocutaneous telangiectasia and recurrent sinobronchitis in childhood, has recently been described in the American literature. The close similarity of the clinical features observed by Boder and Sedgwick (1957, 1958), Wells and Shy (1957), Biedmond (1957), Centerwall and Miller (1958) and Ford (1960) lea...

[Essential progressive telangiectasia].

by well-established clinical criteria.5 The abnormality is located on chromosome 17 and exhibits autosomal dominant inheritance. Most cases of Sturge-Weber syndrome are sporadic, but a familial distribution has been reported. As a result, the syndrome is believed to follow paradominant inheritance, such that the individual is heterozygotic for this inherited characteristic and phenotypically no...