[A hereditary ataxia associated with hypoalbuminemia and hyperlipidemia--a variant form of Friedreich's disease or a new clinical entity?].
The patients belonged to three different families and were products of consanguineous marriage. The neurological symptoms and signs in these patients began in infancy or childhood and included gait disturbance, horizontal nystagmus, distention tremor of the hands, muscular wasting and sensory impairment of the hands and legs. CT-scan and/or MRI showed atrophy of the cerebellum. Serum biochemical analyses revealed hypoalbuminemia with hyperlipidemia. There were no abnormalities in the heart, liver, kidney, gastrointestinal tract, or endocrine systems. The autopsy revealed degenerative changes in the spinal cord including posterior column and lateral pyramidal tract, as well as in the peripheral nerves and cerebellar cortex. Although we have speculated that the disease presented here would be a clinical variants of Friedreich's disease, it would make a new clinical entity because there was no report about the association to hypoalbuminemia and hyperlipidemia with spinocerebellar degeneration.
Uekawa
K
K
Nursing Home for the Physically Disabled, Tamakina Sou.
Yuasa
T
T
Kawasaki
S
S
Makibuchi
T
T
Ideta
T
T
D000328:Adult; D005260:Female; D005621:Friedreich Ataxia / Q000145:classification*; D006801:Humans; D006949:Hyperlipidemias / Q000150:complications*; D008297:Male; D008875:Middle Aged; D012709:Serum Albumin / Q000032:analysis*; D013132:Spinocerebellar Degenerations / Q000145:classification* / Q000150:complications
D012709:Serum Albumin