Hideo Makishita

Gastrointestinal amyloid deposition in familial amyloid polyneuropathy

We found degeneration of enteric nerve plexuses in two patients with type I familial amyloid polyneuropathy. Amyloid deposition was more severe in the wall of the stomach than in the rectum. Hypomotility of the upper gastrointestinal tract, resulting from both amyloid deposition in the stomach and upper bowel and degeneration of the intrinsic autonomic nerves, may be responsible for anorexia, nausea, and vomiting. Diarrhea and constipation may be caused by degeneration of the enteric nerve plexuses. Gastric biopsy is valuable and safe in the diagnosis to type I familial amyloid polyneuropathy.

Tactile agnosia and tactile aphasia : symptomatological and anatomical differences

Two patients with tactile naming disorders are reported. Case 1 (right hand tactile agnosia due to bilateral cerebral infarction) differentiated tactile qualities of objects normally, but could neither name nor categorize the objects. Case 2 (bilateral tactile aphasia after operation of an epidural left parietal haematoma) had as severe a tactile naming disturbance as Case 1, but could categorize objects normally, demonstrating that tactile recognition was preserved. Case 1 may be the first case of tactile agnosia clearly differentiated from tactile aphasia. CT scans of Case 1 revealed lesions in the left angular gyrus, and in the right parietal, temporal, and occipital lobes. Case 2 had lesions in the left angular gyrus and of posterior callosal radiations. Our findings suggest that tactile agnosia appears when the somatosensory association cortex is disconnected by a subcortical lesion of the angular gyrus from the semantic memory store located in the inferior temporal lobe, while tactile aphasia represents a tactual-verbal disconnection.

Modality specific naming and gesture disturbances: a case with optic aphasia, bilateral tactile aphasia, optic apraxia and tactile apraxia.

This study reports a patient who manifested optic aphasia, tactile aphasia, optic apraxia, and tactile apraxia following an operation for epidural left parietal haematoma. He could neither name nor pantomime the use of objects presented visually or tactually, but correctly performed semantic association tasks, thus demonstrating preserved recognition. He could name and pantomime the use of auditorily presented objects. Experimental results disproved that pantomime disorders were secondary to naming disorders, and suggested that modality specific aphasia and modality specific apraxia are independent clinical syndromes. CT scans showed injury to the posterior callosal radiations, the white matter of the angular gyrus, and the medial portion of the occipital lobe in the left hemisphere. We suggest that modality specific aphasia and modality specific apraxia can be explained by assuming a common semantic memory store.

Postmortem pathological findings in a Japanese patient with familial amyloidosis, Finnish type (FAF)

We report the histopathological findings for the first autopsy of a Japanese patient with familial amyloidosis, Finnish type (FAF). The patient was an 82-year-old man with the clinical triad of FAF and the causative gene abnormality of gelsolin. Amyloid deposition on the visceral organs was not significant except for the arterial walls, most prominent on the internal elastic lamina. Cerehrovascular amyloidosis with Aβ immunoreactivity accompanied by a small number of senile plaques was seen in the brain. Moderate amyloid deposits were present in the endoneuritnn and arterioles in the intracranial roots of the facial and trigeminal nerves, but no amyloid deposits were present in the intralingual nerves. Limb peripheral nerves and autonomic nerves showed amyloid deposits localized on the perineurium and epineurium, hut no significant loss of nerve fibers. The pattern of AGel immunoreactive amyloid deposition in our patient was similar to that described in Finnish patients with FAF and these amyloid deposits...

A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2)

We report a 67-year-old Japanese woman with ataxia with oculomotor apraxia type 2 (AOA2). She was born to consanguineous parents and showed a teenage onset, a slowly progressive cerebellar ataxia and sensory-motor neuropathy and an elevated level of serum α-fetoprotein (AFP). All of these clinical features were consistent with typical AOA2. She lacked oculomotor apraxia, as frequently observed in previously reported AOA2 patients. She was homozygous for a novel nonsense mutation, Glu385Ter (E385X), in the senataxin gene (SETX). To our knowledge, this is the fifth Japanese family with genetically confirmed AOA2. The mutations in SETX in Japanese AOA2 families are heterogeneous, except for M274I, which has been found in two unrelated families. More extensive screening by serum AFP followed by molecular genetic analysis of SETX in patients with Friedreich’s ataxia-like phenotype may show that AOA2 is more common in Japan than previously thought.

Axonal TDP-43 aggregates in sporadic amyotrophic lateral sclerosis.

Axonal aggregates of phosphorylated (p‐) transactive response DNA‐binding protein 43 kDa (TDP‐43) in sporadic amyotrophic lateral sclerosis (sALS) were examined in relation to propagation of the protein in the nervous system.

Shinshu Brain Resource Net

“Shinshu Brain Resource Net” is a database of pathological reports, stained sections and paraffin blocks of brains, clinical information and images of nervous systems of patients with neurological diseases autopsied in core hospitals in Nagano prefecture, Japan (Fig. 1). The Net was established in August 2010 and is now managed by 17 Board Members. The total number of patients registered was 841 in February 2016. The materials of the registered patients autopsied have been used for various collaborative researches, and for education and enlightenment of medical students and doctors at lectures and clinical and pathological conferences (Shinshu NeuroCPC) which were held featuring particular neurological themes. Papers reported using the autopsy cases of the Net, ongoing researches and themes of the Shinshu NeuroCPC are noted below. All of the materials are kept in each hospital where the autopsies were done, and the principle data of each patient are gathered in the Division of Neuropathology, Department of Brain Disease Research, Shinshu University School of Medicine, Nagano, Japan. The “Shinshu Brain Resource Net” contains 63 sporadic amyotrophic lateral sclerosis (ALS), eight familial ALS containing L106 V and C111Y mutations of SOD1, 18 spinocerebellar ataxia containing SCA31, 21 familial amyloid polyneuropathy, four transthyretin amyloid angiopathy, three citrullinemia and two aceruloplasminemia. The “Shinshu Brain Resource Net” is open for collaborative studies by researchers as well as the members of the Board.