Dentatorubropallidoluysian Atrophy with Prominent Autonomic Dysfunction.

We herein report a 45-year-old man with dentatorubropallidoluysian atrophy (DRPLA) who presented with mild dementia, ataxia, and involuntary movement and developed constipation, dysuria, and orthostatic hypotension. Thermography revealed an abnormal thermal response of the skin to cold stimulation. Skin temperature reflects the skin blood flow and is regulated by the sympathetic nervous system. Thermography is currently used to study diseases associated with vasomotor dysfunction of the skin. The thermography results suggested the possibility of autonomic dysfunction. Although little is known regarding autonomic dysfunction in DRPLA, this report demonstrates the importance of autonomic dysfunction in DRPLA.

Clinical features of hemichoreahemiballism: A stroke-related movement disorder.

We examined pathogenesis and clinical features of three hemichorea-hemiballism (HCHB) cases. We studied their age, magnetic resonance imaging results, vascular risk factors, management, and outcomes. One man and two women (aged 74-86 years) demonstrated acute onset of HCHB, lasting for at least several months. Patients had one or more vascular risk factors, including hypertension and diabetes. All patients presented subacute or old infarction in the basal ganglia with contralateral symptoms. We administered clonazepam (0.5-1 mg/day), haloperidol (0.375-0.75 mg/day), or both as necessary and observed symptom-control. Vascular lesions in the basal ganglia were a contributing factor. Symptoms were controlled using pharmacotherapy with gamma-aminobutyric acid-agonist (clonazepam) or anti-dopaminergic (haloperidol) medication.

Effects of Anma therapy (Japanese massage) on health-related quality of life in gynecologic cancer survivors: A randomized controlled trial.

OBJECTIVES: Anma therapy (Japanese massage therapy, AMT) significantly reduces the severity of physical complaints in survivors of gynecologic cancer. However, whether this reduction of severity is accompanied by improvement in health-related quality of life is unknown. METHODS: Forty survivors of gynecologic cancer were randomly allocated to either an AMT group that received one 40-min AMT session per week for 8 weeks or a no-AMT group. We prospectively measured quality of life by using the Japanese version of the European Organization for Research and Treatment of Cancer QLQ-C30 version 3.0 (EORTC QLQ-C30) at baseline and at 8-week follow-up. The QLQ-C30 response rate was 100%. Hospital Anxiety Depression Scale (HADS), Profile of Mood States (POMS), and Measure of Adjustment to Cancer were also prespecified and prospectively evaluated. RESULTS: The QLQ-C30 Global Health Status and Quality of Life showed significant improvement at 8 weeks (P = 0.042) in the AMT group compared with the no-AMT group, and the estimated mean difference reached a minimal clinically important difference of 10 points (10.4 points, 95% CI = 1.2 to 19.6). Scores on fatigue and insomnia showed significant improvement in the AMT group compared with the no-AMT group (P = 0.047 and 0.003, respectively). There were no significant between-group improvements in HADS anxiety and depression scales; however, POMS-assessed anger-hostility showed significant improvement in the AMT group compared with the no-AMT group (p = 0.028). CONCLUSIONS: AMT improved health-related quality of life in gynecologic cancer survivors. AMT can be of potential benefit for applications in oncology.

Clinical features of drug-induced Parkinsonism.

Drug-induced Parkinsonism is often reversible after withdrawal of the causative drug. Its clinical course, however, is not well understood, as the majority of cases are caused by drugs prescribed by departments outside of neurology. We reviewed 21 cases of drug-induced parkinsonism for several factors, including age, sex, causative drug and reason for prescription, department by which it was prescribed, and outcome. The age at onset ranged from 40 to 87 years, with an average Hoehn and Yahr Scale score of 4, indicating severe disability. Sulpiride was the most commonly observed causative drug (71.4%). All causative drugs were prescribed in non-neurological departments and over one half were prescribed in non-psychiatric departments; most were prescribed to treat depression or abdominal discomfort. Ten patients (48%) were previously diagnosed with a neuromuscular disease, including cerebrovascular diseases and Parkinson's disease. Recovery was observed in 15 cases (71%) after withdrawal of the causative drug, but lingering symptoms were observed in the remaining cases. It is suggested that physicians should be more cautious of Parkinsonian side effects when prescribing such drugs.

Physical effects of Anma therapy (Japanese massage) for gynecologic cancer survivors: A randomized controlled trial.

OBJECTIVES: Cancer survivors often have physical and psychological complaints after standard cancer treatment. We conducted a randomized control trial to evaluate the physical and psychological/emotional effects of Anma therapy (Japanese massage, AMT) in gynecologic cancer survivors. The primary objective was to verify the effects of 8 consecutive weeks of weekly AMT. The secondary objective was to confirm the immediate effects of single-session AMT. We report here results of the physical effects of AMT. METHODS: Forty participants were randomly allocated to an AMT group that received one 40-min AMT session per week for 8weeks and a no-AMT group. The primary endpoint was severity of subjective physical complaints assessed using a visual analogue scale (VAS). Secondary endpoints were urine and saliva analyses and psychological/emotional questionnaire scores. RESULTS: In the primary analysis, least-squares means (LSM) estimates of VAS score improvement over the 8weeks were -21.5 (95% confidence interval [CI], -30.1 to -12.8, P=0.0017) in the AMT group (n=20) and 0.8 (95%CI, -7.7 to 9.2, P=0.89) in the no-AMT group (n=20). The difference in the LSM estimates between the groups was -22.2 (95%CI, -34.4 to -10.1, P=0.0007). There were significant differences in VAS score and urinary epinephrine between before and after the intervention session, demonstrating the superiority of AMT. CONCLUSIONS: A single AMT session reduces the severity of subjective physical complaints and might inhibit the sympathetic nervous system in gynecologic cancer survivors. Receiving weekly AMT sessions for eight weeks effectively continues to reduce the severity of subjective physical complaints.

A case of complex partial seizure with reversible MRI abnormalities in the elderly.

A 79-year-old woman was admitted to our hospital because of prolonged impaired consciousness and right hemiparesis. She was treated for acute cerebral infarction because her brain magnetic resonance imaging showed extensive cortical lesions similar to acute infarction in diffusion weighted image, fluid attenuated inversion recovery, and T2 weighted images. On the fifth day, she had a focal seizure on the right side. A new lesion during imaging and electroencephalogram abnormality were observed at that time. After the antiepileptic drug treatment was started, her right hemiparesis considered as ictal paresis, confusion, and the magnetic resonance imaging findings gradually improved. There was also an old, irreversible lesion in the left hippocampus, which was considered as the focus of her complex partial seizure. In the elderly, the post-ictal period of confusion, which occurs with complex partial seizure, may be prolonged. In our case, improvement of hemiparesis and confusion occurred after about 2 weeks.

Anma massage (Japanese massage) therapy for patients with Parkinson's disease in geriatric health services facilities: Effectiveness on limited range of motion of the shoulder joint.

OBJECTIVE: To determine the efficacy of Anma massage therapy for patients with Parkinson's disease (PD) in geriatric health services facilities. METHODS: (1) Immediate treatment effects: 10 PD patients, in the intervention period with Hoehn and Yahr (H&Y) scale at stage 5, received 30-40 min sessions of Anma massage therapy. In the non-intervention period, six PD patients did not undergo this therapy. The shoulder joint range of motion (ROM) was measured before and after each session. (2) Continuous treatment effects: Six PD patients in the intervention period received the same massage sessions once a week continuously for seven weeks. One week after the completion of the treatment, the ROM of the shoulder joints was measured. RESULTS: (1) Shoulder abduction on the more affected side showed immediate significant improvements. (2) Shoulder abduction on the more affected side and less affected side showed notable effects of continuous treatment procedure leading to significant improvement. CONCLUSION: The above results suggested the efficacy of successive Anma massage therapy.

Effectiveness of Anma massage therapy in alleviating physical symptoms in outpatients with Parkinson's disease: a before-after study.

We aimed to confirm the physical effects of a single Anma massage session and continuous Anma massage therapy for outpatients with Parkinson's disease (PD). Twenty-one PD outpatients (mean age, 64.43 ± 8.39 [SD] years; Hoehn and Yahr stage I-IV) received a single 40-min Anma massage session involving upper and lower limb exercises and some subsequently received seven weekly Anma massage sessions. After a single session, visual analogue scale scores were significantly lower for muscle stiffness, movement difficulties, pain, and fatigue; gait speed and pegboard test time were significantly shortened; stride length was significantly lengthened; and shoulder flexion and abduction were significantly improved. No significant changes occurred in controls. After continuous sessions, we found general improvements in the same outcomes. In conclusion, Anma massage might effectively alleviate various physical PD symptoms; furthermore, because it is given through clothing, Anma massage is accessible for PD patients with movement difficulties.

The CHC22 clathrin-GLUT4 transport pathway contributes to skeletal muscle regeneration.

Mobilization of the GLUT4 glucose transporter from intracellular storage vesicles provides a mechanism for insulin-responsive glucose import into skeletal muscle. In humans, clathrin isoform CHC22 participates in formation of the GLUT4 storage compartment in skeletal muscle and fat. CHC22 function is limited to retrograde endosomal sorting and is restricted in its tissue expression and species distribution compared to the conserved CHC17 isoform that mediates endocytosis and several other membrane traffic pathways. Previously, we noted that CHC22 was expressed at elevated levels in regenerating rat muscle. Here we investigate whether the GLUT4 pathway in which CHC22 participates could play a role in muscle regeneration in humans and we test this possibility using CHC22-transgenic mice, which do not normally express CHC22. We observed that GLUT4 expression is elevated in parallel with that of CHC22 in regenerating skeletal muscle fibers from patients with inflammatory and other myopathies. Regenerating human myofibers displayed concurrent increases in expression of VAMP2, another regulator of GLUT4 transport. Regenerating fibers from wild-type mouse skeletal muscle injected with cardiotoxin also showed increased levels of GLUT4 and VAMP2. We previously demonstrated that transgenic mice expressing CHC22 in their muscle over-sequester GLUT4 and VAMP2 and have defective GLUT4 trafficking leading to diabetic symptoms. In this study, we find that muscle regeneration rates in CHC22 mice were delayed compared to wild-type mice, and myoblasts isolated from these mice did not proliferate in response to glucose. Additionally, CHC22-expressing mouse muscle displayed a fiber type switch from oxidative to glycolytic, similar to that observed in type 2 diabetic patients. These observations implicate the pathway for GLUT4 transport in regeneration of both human and mouse skeletal muscle, and demonstrate a role for this pathway in maintenance of muscle fiber type. Extrapolating these findings, CHC22 and GLUT4 can be considered markers of muscle regeneration in humans.

Effects of traditional Japanese massage therapy on various symptoms in patients with Parkinson's disease: a case-series study.

OBJECTIVES: Massage therapy is one of the most commonly used complementary therapies for patients with Parkinson's disease (PD). The aim of this preliminary study was to evaluate the effects of traditional Japanese massage therapy on various symptoms of patients with PD. DESIGN: The study design was a case series study. SETTING: The study was conducted at the Center for Integrative Medicine, Tsukuba University of Technology, Japan. SUBJECTS: The subjects were 10 patients with idiopathic PD (mean age, 69.6±7.7 years; range, 55-85 years) who presented for consultation with a neurologist between February and April 2009 and who desired massage therapy in conjunction with standard pharmaceutical treatment. INTERVENTION: The intervention comprised a 30-minute session of traditional Japanese massage in conjunction with standard conventional medication. OUTCOME MEASURES: The outcome measures were as follows: Gait speed in the 20-m walk test (10-m walk and return) for gait disturbance, angular range of shoulder joint motion for frozen shoulder, and a visual analogue scale (VAS) for assessing the severity of each of various symptoms (hypophonia, shoulder stiffness, muscle pain, heaviness or lassitude of a body part, and fatigue), as determined before and after the massage session. RESULTS: (1) Patients with gait disturbance showed improved gait speed, (2) those with frozen shoulder showed improved range of motion of the shoulder joint, and (3) VAS scores for assessing the severity of other subjective symptoms were improved. CONCLUSIONS: These results suggest that traditional Japanese massage therapy used in combination with medication is effective for alleviating various symptoms in patients with PD and may contribute to enhancing their health-related quality of life. Larger studies with a control group are required to verify these findings.

Acupuncture might have contributed to improving amenorrhoea in a top athlete.

A 26-year-old top female athlete (height 157 cm), who took part in competitive sport similar to middle- and long-distance running, became amenorrhoeic in February 2009. In late May 2009, athletic amenorrhoea was diagnosed and a norgestrel-ethinyl estradiol combination (norgestrel 0.5 mg and ethinyl estradiol 0.05 mg three times daily) was prescribed for 2 weeks. She experienced menstrual bleeding on one occasion for 4 days in mid-June before becoming amenorrhoeic again. The athlete visited our centre to try acupuncture treatment. Forty-six acupuncture sessions were given between 1 October 2009 and 2 November 2010. Acupuncture point selection was based on classical acupuncture medicine and included points long used for gynaecological disorders in Japan--namely, CV6, CV12, LR3, LR14, BL17, BL18, BL23, SP6 and SP10. On 7 May 2010, owing to lack of regular normal vaginal bleeding, she again consulted her gynaecologist and was prescribed the same hormone preparation as used previously. She took it for 2 weeks in conjunction with acupuncture treatment. From July, the amount and duration of menstrual flow increased at regular intervals. Throughout July, a biphasic pattern in basal body temperature (BBT) was gradually established. In conclusion, the single hormone replacement therapy in May 2009 without acupuncture treatment was not effective for the amenorrhoea, nor was the single acupuncture treatment between October 2009 and May 2010. However, after hormone replacement therapy was started in May 2010 in conjunction with regular acupuncture treatment, menstrual blood flow restarted and BBT moved close to the biphasic pattern.

Effects of traditional Japanese massage therapy on gene expression: preliminary study.

OBJECTIVES: Changes in gene expression after traditional Japanese massage therapy were investigated to clarify the mechanisms of the clinical effects of traditional Japanese massage therapy. DESIGN: This was a pilot experimental study. SETTINGS/LOCATION: The study was conducted in a laboratory at Tsukuba University of Technology. SUBJECTS: The subjects were 2 healthy female volunteers (58-year-old Participant A, 55-year-old Participant B). INTERVENTIONS: The intervention consisted of a 40-minute full-body massage using standard traditional Japanese massage techniques through the clothing and a 40-minute rest as a control, in which participants lie on the massage table without being massaged. OUTCOME MEASURES: Before and after an intervention, blood was taken and analyzed by microarray: (1) The number of genes whose expression was more than double after the intervention than before was examined; (2) For those genes, gene ontology analysis identified statistically significant gene ontology terms. RESULTS: The gene expression count in the total of 41,000 genes was 1256 genes for Participant A and 1778 for Participant B after traditional Japanese massage, and was 157 and 82 after the control, respectively. The significant gene ontology terms selected by both Participants A and B after massage were "immune response" and "immune system," whereas no gene ontology terms were selected by them in the control. CONCLUSIONS: It is implied that traditional Japanese massage therapy may affect the immune function. Further studies with more samples are necessary.

Electroacupuncture therapy for arthralgia and Raynaud's phenomenon in a patient with systemic lupus erythematosus.

A 45-year-old woman with systemic lupus erythematosus presented with multiple arthralgia, coldness in fingers and toes, and Raynaud's phenomenon. Electroacupuncture (EA) therapy was performed in two courses (14 treatment sessions) 1 month apart. A needle was inserted in the proximal (or medial) side of the painful joint and another needle was inserted in the distal (or lateral) side of the same joint and a 50 Hz stimulus was applied (3 s bursts with 1 s gaps) for 15 min. A visual analogue scale was used to evaluate pain intensity. Cold provocation testing was conducted before and after EA sessions to determine the vasomotor response. Visual analogue scale scores were lower after EA sessions than before. Before starting EA, the skin temperature of the right mid fingertip was 27.9 degrees C and that of the left mid fingertip was 28.3 degrees C. In contrast, after the EA sessions, the skin temperature of the right mid fingertip was 34.8 degrees C and that of the left mid fingertip was 34.7 degrees C. In the last EA session, the patient reported that the cold in her fingers and toes had eased and Raynaud's phenomenon, in which nail colour tone changed from white to red, had disappeared. In the cold-provocation test, before EA, the temperature recovery rates of mid fingertips after cold exposure reached over 80% in 20 min. In contrast, after EA had been completed, the temperature recovery rate exceeded 80% in 10 min, thus the delay of temperature recovery was alleviated.

Neuromuscular features in the camera-marugo-cohen syndrome.

We describe the case of a 24-year-old Japanese man suffering from obesity, mental retardation, muscle weakness, camptodactyly, syndactyly, and a urinary tract cleft. His muscle weakness, which was slightly distally dominant in the extremities, was almost static and showed slow progression for several years. He had normal blood chromosomes (46, XY) and showed normal levels of sex hormones. A needle electromyographic examination of the upper- and lower-limb muscles revealed a reinnervation pattern with large-amplitude, long-duration motor unit potentials. A muscle biopsy also showed denervation and reinnervation patterns, with small-group atrophy and type grouping, with numerous small, angulated fibers. Our findings suggest that these neuromuscular features of the Camera-Marugo-Cohen syndrome are caused by neurogenic changes rather than myogenic changes.

Beta-synemin expression in cardiotoxin-injected rat skeletal muscle.

BACKGROUND: Beta-synemin was originally identified in humans as an alpha-dystrobrevin-binding protein through a yeast two-hybrid screen using an amino acid sequence derived from exons 1 through 16 of alpha-dystrobrevin, a region common to both alpha-dystrobrevin-1 and -2. alpha-Dystrobrevin-1 and -2 are both expressed in muscle and co-localization experiments have determined which isoform preferentially functions with beta-synemin in vivo. The aim of our study is to show whether each alpha-dystrobrevin isoform has the same affinity for beta-synemin or whether one of the isoforms preferentially functions with beta-synemin in muscle. METHODS: The two alpha-dystrobrevin isoforms (-1 and -2) and beta-synemin were localized in regenerating rat tibialis anterior muscle using immunoprecipitation, immunohistochemical and immunoblot analyses. Immunoprecipitation and co-localization studies for alpha-dystrobrevin and beta-synemin were performed in regenerating muscle following cardiotoxin injection. Protein expression was then compared to that of developing rat muscle using immunoblot analysis. RESULTS: With an anti-alpha-dystrobrevin antibody, beta-synemin co-immunoprecipitated with alpha-dystrobrevin whereas with an anti-beta-synemin antibody, alpha-dystrobrevin-1 (rather than the -2 isoform) preferentially co-immunoprecipitated with beta-synemin. Immunohistochemical experiments show that beta-synemin and alpha-dystrobrevin co-localize in rat skeletal muscle. In regenerating muscle, beta-synemin is first expressed at the sarcolemma and in the cytoplasm at day 5 following cardiotoxin injection. Similarly, beta-synemin and alpha-dystrobrevin-1 are detected by immunoblot analysis as weak bands by day 7. In contrast, immunoblot analysis shows that alpha-dystrobrevin-2 is expressed as early as 1 day post-injection in regenerating muscle. These results are similar to that of developing muscle. For example, in embryonic rats, immunoblot analysis shows that beta-synemin and alpha-dystrobevin-1 are weakly expressed in developing lower limb muscle at 5 days post-birth, while alpha-dystrobrevin-2 is detectable before birth in 20-day post-fertilization embryos. CONCLUSION: Our results clearly show that beta-synemin expression correlates with that of alpha-dystrobrevin-1, suggesting that beta-synemin preferentially functions with alpha-dystrobrevin-1 in vivo and that these proteins are likely to function coordinately to play a vital role in developing and regenerating muscle.

[A case of acute disseminated encephalomyelitis (ADEM) associated with peripheral neuropathy].

A 17-year-old boy with high fever, headache, and neck stiffness was admitted to our hospital. Spinal fluid showed a protein level of 215 mg/dL with myelin basic protein (579 pg/mL), 347/ microl cells (330 mononuclear cells), and a glucose level of 53 mg/dL. One week later, urinary retention, flaccid paraplegia, and sensory disturbance below the 10th thoracic level developed. MRI of the spinal cord revealed swelling and T2-high intensity area in the cord at the 11th and 12th thoracic level. Although high-dose of methylprednisolone was administered, consciousness disturbance and respiratory failure that required mechanical ventilation occurred. Bilateral abducens nerve palsy, nystagmus, and flaccid tetraparesis also occurred. Brain MRI revealed T2-high intensity area in the midbrain and pons. Nerve conduction study showed diminished amplitudes and prolonged latencies or absence of F waves. The patient was administered a combination of intravenous immunoglobulin and a high-dose of methylprednisolone. He showed improvement within one week after the treatment. Two weeks later, he recovered from respiratory failure and weakness of the upper limbs. He remained paraplegic, but gradually improved and was able to walk with support one and a half years later. We suggest the combination therapy of intravenous immunoglobulin and a high-dose of methylprednisolone is effective for patients with combined ADEM and peripheral neuropathy.