Brainstem and spinal cord motor neuron involvement with optineurin inclusions in proximal-dominant hereditary motor and sensory neuropathy
- Koji Fujita1,
- Mari Yoshida2,
- Wataru Sako1,
- Kouji Maeda1,3,
- Yoshio Hashizume4,
- Satoshi Goto1,
- Gen Sobue5,
- Yuishin Izumi1,
- Ryuji Kaji1
- 1Department of Clinical Neuroscience, The University of Tokushima Graduate School, Tokushima, Japan
- 2Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan
- 3Department of Neurology, Oka Hospital, Sanuki, Japan
- 4Choju Medical Institute, Fukushimura Hospital, Toyohashi, Japan
- 5Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
- Correspondence to Dr Ryuji Kaji, Department of Clinical Neuroscience, The University of Tokushima Graduate School, 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan; rkaji{at}clin.med.tokushima-u.ac.jp
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Contributors All authors contributed to the analysis and interpretation of data, drafting of the article or revising it critically for important intellectual content, and final approval of the version to be published.
- Received 20 June 2011
- Revised 11 July 2011
- Accepted 12 July 2011
- Published Online First 11 August 2011
- Proximal-dominant hereditary motor and sensory neuropathy
- motor neuron disease
- optineurinALSCreutzfeldt–Jakob diseaseneuroimmunologyneuroradiologyNMDA
- ALSCreutzfeldt–Jakob diseaseneuroimmunologyneuroradiologyNMDA
- Creutzfeldt–Jakob diseaseneuroimmunologyneuroradiologyNMDA
- neuroimmunologyneuroradiologyNMDA
- neuroradiologyNMDA
- NMDA
- B12 deficiency
- dystonia
- genetics
- neuromuscular
- neuropathy
- peripheral neuropath
- GBS
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.
Case report
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 …
