[Is intensive and comprehensive dysphagia rehabilitation effective in preventing hospital-acquired pneumonia in a convalescent rehabilitation ward?]

AIM: To evaluate the effect of intensive and comprehensive dysphagia rehabilitation on the prevention of hospital-acquired pneumonia. PATIENTS AND METHODS: In this non-randomized retrospective observational study, we compared two patient groups in a convalescent rehabilitation ward. One included patients after the introduction of an intensive and comprehensive rehabilitative program including various measures, such as nutritional support and respiratory physical therapy (intensive program group); the other included patients who had been admitted before the introduction of the above measures (control group). The primary endpoint was the onset of pneumonia during the hospital stay. A multivariate logistic regression analysis was used to determine the adjusted odds ratio for the relationship between dysphagia rehabilitation and pneumonia onset. RESULTS: In the intensive program group, 5 of 291 patients were diagnosed with pneumonia, while in the control group, 13 of 460 were diagnosed with pneumonia. The adjusted odds ratio for intensive and comprehensive dysphagia rehabilitation with respect to hospital-acquired pneumonia was 0.326 (95% confidence interval: 0.112-0.949, p=0.040). CONCLUSION: This intensive and comprehensive dysphagia rehabilitation program was thought to be effective in preventing hospital-acquired pneumonia in a convalescent rehabilitation ward.

Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study.

Spinocerebellar ataxia type 31 (SCA31) is known as a late-onset, relatively pure cerebellar form of ataxia, but a longitudinal prospective study on the natural history of SCA31 has not been done yet. In this prospective cohort study, we enrolled 44 patients (mean ± standard deviation 73.6 ± 8.5 years) with genetically confirmed SCA31 from 10 ataxia referral centers in the Nagano area, Japan. Patients were evaluated every year for 4 years using the Scale for the Assessment and Rating of Ataxia (SARA) and the Barthel Index (BI). Of the 176 follow-up visits (91.5%), 161 were completed in this study. Five patients (11.4%) died during the follow-up period, and two patients (4.5%) were lost to follow-up. The annual progression of the SARA score was 0.8 ± 0.1 points/year and that of the BI was -2.3 ± 0.4 points/year (mean ± standard error). Shorter disease duration at baseline was associated with faster progression of the SARA score. Our study indicated the averaged clinical course of SCA31 as follows: the patients develop ataxic symptoms at 58.5 ± 10.3 years, become wheelchair bound at 79.4 ± 1.7 years, and died at 88.5 ± 0.7 years. Our prospective dataset provides important information for clinical trials of forthcoming disease-modifying therapies for cerebellar ataxia. It also represents a useful resource for SCA31 patients and their family members in genetic counseling sessions.

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

Autosomal recessive cerebellar ataxias and autosomal recessive hereditary spastic paraplegias (ARHSPs) are clinically and genetically heterogeneous neurological disorders. Herein we describe Japanese siblings with a midlife-onset, slowly progressive type of cerebellar ataxia and spastic paraplegia, without intellectual disability. Using whole exome sequencing, we identified a homozygous missense mutation in DDHD2, whose mutations were recently identified as the cause of early-onset ARHSP with intellectual disability. Brain MRI of the patient showed a thin corpus callosum. Cerebral proton magnetic resonance spectroscopy revealed an abnormal lipid peak in the basal ganglia, which has been reported as the hallmark of DDHD2-related ARHSP (SPG 54). The mutation caused a marked reduction of phospholipase A1 activity, supporting that this mutation is the cause of SPG54. Our cases indicate that the possibility of SPG54 should also be considered when patients show a combination of adult-onset spastic ataxia and a thin corpus callosum. Magnetic resonance spectroscopy may be helpful in the differential diagnosis of patients with spastic ataxia phenotype.

Cerebral hemorrhage in Fabry's disease.

Fabry's disease is an X-linked lysosomal storage disorder resulting from alpha-galactosidase A deficiency. Although ischemic stroke is recognized as an important manifestation of Fabry's disease, hemorrhagic stroke is considered to be rare. Here, we report our recent clinical experience with three hemizygous male patients with Fabry's disease who developed cerebral hemorrhage. One patient had classic type Fabry's disease with p.Ala37Val mutation and others had cerebrovascular variant with p.Glu66Gln mutation. Degeneration of the cerebral small arteries secondary to deposition of glycosphingolipids and aging, in addition to hypertension and antiplatelet/anticoagulant agents, are considered to be contributing factors for hemorrhage. Fabry's disease is frequently associated with not only ischemic but also hemorrhagic stroke, especially in elderly patients.

Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan.

16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA) is a recently defined subtype of ADCA identified by a disease-specific C/T substitution in the 5' untranslated region of the puratrophin-1 gene. In Nagano, the central mountainous district of the main island of Japan, 16q-ADCA and spinocerebellar ataxia type 6 (SCA6) are the most and second most prevalent subtypes of ADCA, respectively. Both subtypes are classified into Harding's ADCA III, but little attention has been given to the differences in the severity and progression rate of cerebellar ataxia between 16q-ADCA and SCA6. We investigated the clinical severity and progression rate of cerebellar ataxia of 16q-ADCA patients using international cooperative ataxia rating scale and scale for the assessment and rating of ataxia and compared them with those of SCA6 patients. The age at onset was much higher in 16q-ADCA patients (60.1 +/- 9.8 years, n = 66) than in SCA6 patients (41.1 +/- 8.7 years, n = 35). Clinical features of 16q-ADCA were basically consistent with pure cerebellar ataxia, as well as in SCA6, but gaze-evoked nystagmus was observed less frequently in 16q-ADCA patients than in SCA6 patients. When compared at almost the same disease duration after onset, the severity of cerebellar ataxia was a little higher, and the progression rate seemed more rapid in 16q-ADCA patients than in SCA6 patients, but the differences were not significant.

[A case of Sjögren's syndrome with subacute transverse myelitis as the initial manifestation].

We report a case of subacute transverse myelitis associated with Sjögren's syndrome free of xerosis. A 62-year-old man was admitted due to dysesthesia of both lower extremities and the left trunk, weakness of the left leg, and urinary disturbance. Neurological examination showed myelopathy at the Th7 level. CSF had increased protein (82 mg/dl) and IgG (23.4 mg/dl) and IgG index (1.03) but an almost normal cell count (7/mm3). T2-weighted MRI showed a high signal intensity lesion at the sixth and seventh thoracic levels. Although he was free of xerosis, typical sialographic findings, as well as the presence of anti-SSA antibody, are consistent with the diagnostic criteria for Sjögren's syndrome decided by the Japanese research group on Sjögren's syndrome. The patient was treated with prednisolone, 60 mg/day, which completely cured his muscle weakness and difficulty in walking, and sensory disturbance was gradually alleviated. Spinal MRI detected a marked reduction in the size of T2-weighted high signal intensity lesion during prednisolone treatment. In Western countries, central nervous system complications are reported in up to 20% of Sjögren's syndrome patients, but myelopathy is a very rare condition. Only 12 cases, including ours, have been reported. The clinical manifestations of myelopathy in Sjögren's syndrome include acute or subacute transverse myelitis (6 cases, including ours), chronic progressive myelopathies (2 cases.), relapsing and remitting cord syndromes (4 cases) and Brown-Séquard syndrome (none). Ten patients were women. In 9 of 12 cases there were sicca symptoms. The level of the myelopathies in 6 of 10 cases was between the third to eighth thoracic level, consistent with the region vulnerable to ischemia. Eight patients were treated successfully with steroids. We speculate that ischemia due to vasculitis is important in the genesis of myelopathy associated with Sjögren's syndrome. In the case of myelopathy, especially in the thoracic cord, it is necessary to look for evidence of Sjögren's syndrome even when xerosis is unremarkable.