Rinsho Shinkeigaku (Clinical Neurology)

Case Report

A case of hereditary sensory and autonomic neuropathy type 1E with frontal lobe dysfunction as an initial symptom

Masashi Watanabe, M.D.1), Yushi Matsumoto, M.D.1), Kensho Okamoto, M.D.1), Bungo Okuda, M.D., Ph.D.1), Ikuko Mizuta, M.D., Ph.D.2) and Toshiki Mizuno, M.D., Ph.D.2)

1)Department of Neurology, Ehime Prefectural Central Hospital
2)Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine

A 49-year-old man had developed gradually personality change, gait disturbance, and hearing loss for five years. On admission, he presented with frontal release signs, stuttering, vertical gaze palsy, sensorineural deafness, muscle rigidity, ataxia, and sensory disturbance with areflexia in the lower extremities. Brain MRI demonstrated atrophy in the cerebellum and midbrain tegmentum as well as cerebral atrophy, predominantly in the frontal lobe. He was tentatively diagnosed as progressive supranuclear palsy on the basis of clinical features and imagings. On nerve conduction study, no sensory nerve action potentials were elicited in the upper and lower extremities. Details of family history revealed a hereditary sensory neuropathy with autosomal dominant inheritance in his relatives. Because genetic analysis showed a rare missense mutation (c.1483T>C, p.Y495H) in DNA methyltransferase 1 gene, we diagnosed him as having hereditary sensory and autonomic neuropathy type 1E (HSAN1E). In addition, p.M232R mutation in prion protein gene was detected. It should be kept in mind that there are some patients with HSAN1E presenting with frontal lobe dysfunction as an initial symptom and with clinical features mimicking progressive supranuclear palsy.
Full Text of this Article in Japanese PDF (770K)

(CLINICA NEUROL, 57: 753|758, 2017)
key words: hereditary sensory and autonomic neuropathy type 1E, DNA methyltransferase 1 gene, frontal lobe dysfunction, progressive supranuclear palsy, prion protein gene

(Received: 4-Apr-17)