Sensory neuropathy in autosomal recessive juvenile parkinsonism (PARK2).
Autosomal recessive juvenile parkinsonism (ARJP/PARK2) is a distinct clinical and genetic entity characterized by early-onset levodopa-responsive parkinsonism, foot dystonia, sleep benefit, and hyperactive tendon reflexes. We report a patient with genetically confirmed ARJP, who showed mild sensory disturbance and diminished deep tendon reflexes in the advanced stage. Nerve conduction studies revealed a sensory dominant neuropathy, which has not been described in ARJP. We suggest that peripheral neuropathy may occur in patients with advanced ARJP due to the loss of parkin protein function, although the function of parkin in the peripheral nervous system remains to be clarified.
Okuma
Yasuyuki
Y
Department of Neurology, Juntendo Izu-Nagaoka Hospital, 1129 Nagaoka, Izu-Nagaoka, Tagata, 94089, Shizuoka 94089, Japan. sgz02202@nifty.ne.jp
Hattori
Nobutaka
N
Mizuno
Yoshikuni
Y
D006801:Humans; D008025:Ligases / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009431:Neural Conduction; D009475:Neurons, Afferent / Q000502:physiology*; D020734:Parkinsonian Disorders / Q000150:complications* / Q000235:genetics; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D012021:Reflex, Abnormal; D044767:Ubiquitin-Protein Ligases
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases