Yugo Narita

Familial amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Kii peninsula of Japan: Clinical and neuropathological study and tau analysis

We report the first case of neuropathologically verified parkinsonism‐dementia complex of the Kii peninsula, together with the patients brother, who had amyotrophic lateral sclerosis. The propositus woman developed parkinsonism and dementia at 63 years of age and died at 70 without displaying clinical features of amyotrophic lateral sclerosis. The brain exhibited marked atrophy of the frontal and temporal lobes. Microscopically, there were many neurofibrillary tangles in the central nervous system, most markedly in the mesial temporal lobe and deep nuclei, as well as changes of amyotrophic lateral sclerosis but no senile plaques or Lewy bodies. Neurofibrillary tangles exhibited twisted tubule structures on electon microscopic examination, and an analysis of insoluble tau protein extracted from the fresh brain revealed a 60‐, 64‐, 68‐kD triplet. The tau gene exhibited no mutations. Her brother developed progressive bulbar palsy–type amyotrophic lateral sclerosis at 45 years of age and died at 49 without presenting with dementia or parkinsonism. Neuropathological examination revealed not only pathologic features of amyotrophic lateral sclerosis but also a moderate number of neurofibrillary tangles in the temporal cortex and deep nuclei. The siblings were neuropathologically similar despite their different clinical manifestations. These findings suggest that amyotrophic lateral sclerosis and parkinsonism‐dementia complex of this family may be phenotypic variants of a tauopathy caused by genetic abnormalities. Ann Neurol 2001;49:501–511

Moral distress experienced by psychiatric nurses in Japan

This study aimed to: (1) develop and evaluate the Moral Distress Scale for Psychiatric nurses (MDS-P); (2) use the MDS-P to examine the moral distress experienced by Japanese psychiatric nurses; and (3) explore the correlation between moral distress and burnout. A questionnaire on the intensity and frequency of moral distress items (the MDS-P: 15 items grouped into three factors), a burnout scale (Maslach Burnout Inventory — General Survey) and demographic questions were administered to 391 Japanese psychiatric nurses in 2007—2008. These nurses experienced relatively low levels of moral distress despite the fact that they were commonly confronted by morally distressing situations. All the circumstances in which the participants experienced moral distress were included in the ‘low staffing’ factor, which reflects the characteristics of Japanese psychiatric care. The frequency score of the low staffing factor was a significant predictor of burnout.

Validation of the Burden Index of Caregivers (BIC), a multidimensional short care burden scale from Japan

BackgroundWe constructed a concise multidimensional care burden scale that reflects circumstances unique to Japan, with a focus on intractable neurological diseases. We surveyed 646 family caregivers of patients with intractable neurological diseases or stroke using 28 preliminary care burden scale items obtained from qualitative research. The results were used to finalize the feeling of care burden scale (BIC: burden index of caregivers), and verify its reliability and validity.MethodsThe survey was conducted among caregivers providing home health care to patients with intractable neurological diseases (PD [Parkinsons disease], SCD [spinocerebellar degeneration], MSA [multiple system atrophy], and ALS [amyotrophic lateral sclerosis]) or CVA (cerebrovascular accident) using a mailed, self-administered questionnaire between November, 2003 and May, 2004.ResultsResponse rates for neurological and CVA caregivers were 50% and 67%, respectively, or 646 in total (PD, 279; SCD, 78; MSA, 39; ALS, 30; and CVA, 220). Item and exploratory factor analyses led to a reduction to 11 items, comprising 10 items from the 5 domains of time-dependent burden, emotional burden, existential burden, physical burden, and service-related burden; and 1 item on total burden. Examination of validity showed a moderate correlation between each domain of the BIC and the SF-8 (Health related quality of life scale, Short Form-8), while the correlation coefficient of the overall BIC and CES-D was 0.62. Correlation between the BIC and ZBI, a preexisting care burden scale, was high (r = 0.84), while that with the time spent on providing care was 0.47. The ICC (Intraclass correlation coefficient) by test-retest reliability was 0.83, and 0.68 to 0.80 by individual domain.ConclusionThese results show that the BIC, a new care burden scale comprising 11 items, is highly reliable and valid.

Health-related quality of life among community-dwelling patients with intractable neurological diseases and their caregivers in Japan.

Aims:  The aims of this study were: (i) to clarify the general quality of life (QOL) of patients with intractable neurological disease; (ii) to clarify the general QOL of the caregivers of these patients; and (iii) to explore the association of QOL in patient–caregiver pairs.

Geographical distribution of amyotrophic lateral sclerosis with neurofibrillary tangles in the Kii Peninsula of Japan.

Abstract Between 1984 and 1996 we histopathologically examined 26 autopsy cases of amyotrophic lateral sclerosis (ALS) from the Mie Prefecture in eastern and southern Kii Peninsula, which includes the Hohara ALS focus. Four of the individuals had a moderate number of neurofibrillary tangles in the locus coeruleus, substantia nigra, raphe nucleus, periaqueductal grey and hippocampus in addition to the histological changes of ALS. All four came from the vicinity of Hohara; symptoms of ALS developed in 1979, 1987, 1991 and 1993. Two had family history of ALS, and one, of parkinsonism-dementia. These findings confirm that Kii type ALS occurs continuously in and near the Hohara focus.

Neuro-Sweet disease: report of the first autopsy case

Background: Neuro-Sweet disease is a rare condition of central nervous involvement accompanied by cutaneous Sweet lesions. Neuropathological changes in neuro-Sweet disease are unknown. Objective: To describe post-mortem findings of the first case of neuro-Sweet disease. Results: A 44-year-old Japanese man developed recurrent episodes of cerebral and brainstem encephalitis with cutaneous Sweet lesions from the age of 34 years. His HLA typing was B54 and Cw1, and the symptoms and MRI abnormalities markedly subsided following corticosteroid therapy. Histologically, there were multiple lesions of perivascular cuffing of small venules by macrophages without vasculitis in the thalamus, temporal lobe, basal ganglia, pons, leptomeninges or ventricular ependym. Conclusions: The core neuropathological findings were: perivascular cuffing around particularly small veins; absence of granulomatous or necrotic angitis; mainly macrophage infiltration; and the thalamus being most affected. In the present case, the diagnosis of neuro-Sweet disease was made by skin biopsy 5 years after the onset of the central neuron system symptoms. We should pay more attention to skin lesions in steroid responsive recurrent encephalitis in patients who are HLA-B54 or Cw1 positive.

A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan.

ABSTRACTUnusually high incidences of amyotrophic lateral sclerosis (ALS) have been observed in the natives of the Kii Peninsula of Japan as well as the indigenous Chamorro people of Guam. Given the relatively high incidence of familial onset of the disease in the Kii Peninsula, we performed mutational analyses of the SOD1 gene of 23 patients (three familial cases and 20 sporadic cases) with ALS from the Kii Peninsula and its vicinity. In two of the 23 patients, we identified the same missense mutation (substitution of Thr for Ile 113) in exon 4 as a heterozygous state. The Ile113Thr mutation in the SOD1 gene has been identified in some familial as well as sporadic cases with ALS, as a mutation with a low penetrance. This mutation has been reported to be associated with the formation of neurofibrillary tangles in an English family, which is a characteristic feature of ALS in the Kii Peninsula. These results suggest that the Ile113Thr mutation is a characteristic and relatively prevalent mutation in this area.

An adult case of megalencephalic leukoencephalopathy with subcortical cysts with S93L mutation in MLC1 gene: a case report and diffusion MRI.

Case Report A 34-year-old man was admitted to our hospital after a convulsive attack, which had previously occurred only once a few years after his infancy. He was the second child of consanguineous healthy parents. His elder sister was free of neurological problems. Abnormal enlargement of his head developed from the age of 1 year till Dear Sir, Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by clinical features including macrocephaly developed within the first year of life, slow deterioration of motor skills due to increasing ataxia and spasticity, mild cognitive impairment and mild clinical course [1–6] . Magnetic resonance imaging (MRI) findings of this disease are well known including diffuse T 2 hyperintensity in cerebral white matter and subcortical cysts in the temporal and parietal regions early in its course. However, descriptions of MRI features including difthe age of 3 years. Mild delay in mental and motor development was noted at 2 years of age. A diagnosis of hydrocephalus of unknown cause was made at that time without intensive neuroradiological examination. He had mild mental retardation and spastic gait disturbance; these symptoms remained stable over his teens and were thought to be sequelae of hydrocephalus in his infancy. His medical checks and treatment for epilepsy were discontinued at 20 years. He has worked as a full-time factory worker since the age of 20 years.

D-penicillamine-induced myasthenia gravis in a case of eosinophilic fasciitis

A 54-year-old woman who had been treated with D-penicillamine (a daily dose of 100-200 mg for 299 days, total 51.8 g) for eosinophilic fasciitis developed myasthenia gravis associated with an elevated titre of anti-acetylcholine receptor antibody. The patient fully recovered in 6 months after withdrawal of D-penicillamine.

Pressure ulcers in ALS patients on admission at a university hospital in Japan

We aimed to review the incidence of pressure ulcers in patients with amyotrophic lateral sclerosis (ALS) on admission at a teaching hospital in Mie, Japan. 592 patients admitted to the neurological ward of Mie University Hospital from 1 April 2004 to 31 March 2006 were reviewed. A retrospective analysis was conducted based on medical and nursing records about pressure ulcers among patients with ALS, parkinsonism (Parkinsons disease, multisystem atrophy, corticobasal degeneration and progressive supranuclear palsy) and other neurological diseases. 16 patients (12 males and four females) aged 36 to 87 years, 71.2 +/− 14.2 years old (mean +/− SD), were identified as having one or more pressure ulcers on admission. No patients developed a new pressure ulcer after admission. The number of patients with pressure ulcers on admission was two in 41 ALS patients, five in 126 parkinsonism patients and nine in 425 patients with other neurological diseases. A proportional analysis by χ2 test for the groups did not show a lower incidence of pressure ulcers in ALS patients. In conclusion, no differences were found in the incidence of pressure ulcers on admission among three neurological groups at a teaching hospital in Mie, Japan.