[A case of autosomal recessive juvenile parkinsonism (AR-JP) with onset at the age of 6 years].
We report a 26-year-old woman with autosomal recessive juvenile parkinsonism (AR-JP). Her parents made consanguineous marriage. The disease started with dystonic posture of legs 20 years prior to the admission (6 years old). The equinovarus foot appeared at 9 years old and parkinsonism gradually developed. These symptoms were remarkably improved after sleep. Levodopa was effective on her parkinsonian symptoms. However, the response to levodopa gradually reduced. On admission, she presented with a masked face, marked rigidity, moderate retropulsion, postural tremor in the upper limbs and mild hyperreflexia in the lower limbs. Mutational analysis revealed homozygous deletion of exon 4 in perkin gene. This patient has youngest age of onset for ARJP to our knowledge.
Takei
K
K
Department of Neurology, Saitama Medical School.
Yamamoto
T
T
Asano
Y
Y
Iwasaki
S
S
Shimazu
K
K
D000328:Adult; D017668:Age of Onset; D002648:Child; D005260:Female; D006801:Humans; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000503:physiopathology