Naslov
Clinical presentation of a family with hereditary cerebellar ataxia

Autori
Liščić, Rajka ; Pirtošek, Zvezdan

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Abstracts of the Second Croatian Congress of Neurology ; u: Acta Clinica Croatica 36(1997)(S) / Demarin, Vida ; Trkanjec, Zlatko - Zagreb : Birotisak, 1997, 83-84

Skup
Croatian Congress of Neurology (2 ; 1997)

Mjesto i datum
Zagreb, Hrvatska, 14.05.1997. - 17.05.1997

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
cerebellar ataxia; hereditary; clinical picture

Sažetak
Family affected with the syndrome of early-onset cerebellar ataxia is presented (Harding, 1984), i.e. two brothers aged 60 and 70 years with progressive trunk and extremity ataxia, intention tremor and dysdiadochokinesis bilaterally, preserved myotatic reflexes, and with no signs of pyramidal pathway lesion, optic nerve atrophy, cataract and cardiac disorder. Dysarthric, scanded speech was recorded in both patients. One of the brothers had nystagmus which aggravated while looking to the right, whereas the other had pes cavus. Their parents were normal. During hospitalization, attempts were made to determine the etiology of hereditary cerebellar ataxia. Genetic analysis was not possible. Electromyoneurographic analysis showed initial sensorimotor polyneuropathy, mostly of the axonal type. Testing of the autonomic nervous system function indicated mild sensory dysfunction. The value of serum pyruvate was increased (96 mmol/l ; normal 45-68 mmol/l), whereas the values of lactate, acanthocytes and vitamin E were within the normal range. Other neurophysiologic findings were within the normal limits. Psychologic testing revealed a significantly reduced mental control.

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita

POVEZANOST RADA