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- Proximal-dominant hereditary motor and sensory neuropathy
- motor neuron disease
- optineurinALSCreutzfeldt–Jakob diseaseneuroimmunologyneuroradiologyNMDA
- ALSCreutzfeldt–Jakob diseaseneuroimmunologyneuroradiologyNMDA
- Creutzfeldt–Jakob diseaseneuroimmunologyneuroradiologyNMDA
- B12 deficiency
- peripheral neuropath
Proximal-dominant hereditary motor and sensory neuropathy (HMSN-P) is characterised by slowly progressive proximal-dominant atrophy and weakness with fasciculations, sensory disturbance and autosomal dominant inheritance.1 HMSN-P has been reported in Okinawa and Kansai, Japan, and the disease locus was mapped to 3q13.1.2 3
The clinical entity of HMSN-P remains controversial. Although this disease was originally described as a new HMSN, it has sometimes been referred to as a part of HMSN type 2 or axonal HMSN. On the other hand, some clinical features of HMSN-P are similar to those of familial amyotrophic lateral sclerosis (ALS).1 Here, we report an autopsy case of HMSN-P that exhibited prominent lower motor neuron (LMN) lesions in the spinal cord and in the brainstem nuclei. Furthermore, we demonstrated optineurin (OPTN)-positive inclusions, which are seen in sporadic and familial ALS,4 in the affected neurons of the present case.
The patient is the index case of Kansai-type HMSN-P (IV:25 of pedigree 1).3 A 64-year-old man was admitted to a hospital because of gradually developing muscle atrophy and weakness with fasciculations. When he was 51 years old, he had difficulty in climbing up stairs. Five years after the onset, he needed support when walking. Two years later, he was unable to stand up by himself. In a few years, he became bed-ridden. When he was at 64 years of age, he had dysphagia …
Funding This work was supported by Grants-in-Aid from the Research Committee of CNS Degenerative Diseases, the Ministry of Health, Labour and Welfare of Japan.
Competing interests None.
Patient consent Obtained.
Ethics approval This study was approved by the ethics committee of the Tokushima University Hospital.
Provenance and peer review Not commissioned; externally peer reviewed.