[A case of chronic inflammatory demyelinating polyradiculoneuropathy presenting recurrent attacks associated with pregnancies].

At 37 years of age, the patient initially presented with symptoms of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) during her 1st pregnancy. She was treated with intravenous immunoglobulin (IVIg), and showed favorable recovery, becoming almost asymptomatic by the age of 38. At 39 years of age, during her puerperal period of her second pregnancy, she developed symmetrical muscle weakness and sensory disturbance of the upper and lower limbs.

Clinical Relapse of Anti-AMPAR Encephalitis Associated with Recurrence of Thymoma.

We report a rare case of anti-α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) encephalitis presenting clinical relapse in association with recurrence of thymoma. Anti-AMPAR encephalitis is an autoimmune-mediated neurological disease, frequently accompanied by the presence of neoplasms, thus comprising the spectrum of paraneoplastic syndrome. A patient had been in remission for 34 months showed clinical relapse 3 months after the detection of recurrent thymoma.

Postural flexibility during quiet standing in healthy elderly and patients with Parkinson's disease.

Postural instability is one of the predominant symptoms of Parkinson's disease (PD). Despite its significant impact on the deterioration in quality of life in PD patients, mechanistic causes of the instability have not been clarified. Joint inflexibility at ankle and hip joints might be such a major cause, leading to small variability in the center of pressure (CoP) during quiet stance.

[A case of acute autonomic and sensory neuropathy (AASN) with antibody against a mixture of galactocerebroside and phospholipids].

A 62-year-old woman presented with paresthesia of limbs, gait disturbance, urinary retention and constipation following upper respiratory infection. Neurological examination revealed gait disturbance due to loss of position sense in her extremities with intact muscle power, and autonomic failure represented by orthostatic hypotension, constipation and autonomic bladder. Cerebrospinal fluid analysis showed normal cell counts with elevated protein levels.

[An adult-onset multiphasic disseminated encephalomyelitis (MDEM) presenting favorable response to steroid therapy].

A 64-year-old man presented with acute onset of generalized seizure and encephalopathy. FLAIR images of brain MRI showed multifocal high-intensity lesions of the white matter. Within few days after the treatment with intravenous methylprednisolone (1,000 mg/day for 3 days), amelioration of clinical symptoms and recovery of MRI findings were observed.

The Motor Unit Number Index of Subclinical Abnormality in Amyotrophic Lateral Sclerosis.

Purpose: Diagnosis of amyotrophic lateral sclerosis (ALS) at an early stage is challenging, thus making the enrollment of these patients in clinical trials infeasible. In this study, we investigated the potential usability of motor unit number index (MUNIX) to detect denervation of clinically intact muscles of ALS patients.

Methods: Thirty-two first dorsal interosseous muscles of 26 ALS patients were evaluated with both MUNIX and needle electromyography.

[Reversible hepatic myelopathy: a case report].

We report a case of reversible hepatic myelopathy. A 42-year-old female patient with 3-year history of alcoholic liver cirrhosis developed spastic gait, hyperreflexia and mild somatosensory disturbance in her lower extremities. The increased level of serum ammonia and the deficits of N30 and P38 in the tibial somatosensory evoked potentials (SEP) in conjunction with exclusion of the other known causes of myelopathy supported the diagnosis of her hepatic myelopathy.

Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia.

Progressive myoclonic ataxia (PMA) is a clinical syndrome defined as progressive ataxia and myoclonus and infrequent seizures in the absence of progressive dementia. Due to the extremely heterogeneous nature of PMA, a large proportion of PMA cases remain molecularly undiagnosed. The aim of this study was to clarify the molecular etiology of PMA.

[Risk factors for fractures in Parkinson's disease: a questionnaire survey].

This study investigated the risk factors for fractures in patients with Parkinson's disease (PD). A questionnaire specifically designed to examine these risk factors was mailed to 172 PD patients registered in our self-developed PD database. We subsequently received replies from 158 patients, 22(14.

L-threo-3,4-dihydroxyphenylserine (L-DOPS) co-administered with entacapone improves freezing of gait in Parkinson's disease.

Parkinson's disease (PD) is a neurodegenerative disorder characterized by a variety of motor symptoms including freezing of gait (FOG), in which walking is transiently halted as if the patient's feet were 'glued to the ground'. Treatment of FOG is still challenging. Although L-threo-3,4-dihydroxyphenylserine (L-DOPS), a precursor of noradrenaline, has been on the market in Japan because of its beneficial effect for FOG, clinical use of L-DOPS has been far from satisfying.

A quantitative characterization of postural sway during human quiet standing using a thin pressure distribution measurement system.

The accuracy of the center of pressure (CoP) measurement during human quiet standing using an ultra-thin film pressure measurement system (Tekscan, I-Scan) was examined. To this end, CoP sway was measured simultaneously by I-Scan and a force platform (FP) to quantify differences in CoP obtained by the two methods. The sway amplitudes of I-Scan were slightly smaller than those of FP.

Interaction between familial amyotrophic lateral sclerosis (ALS)-linked SOD1 mutants and the dynein complex.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron death. More than 90 mutations in the copper-zinc superoxide dismutase (SOD1) gene cause a subset of familial ALS. Toxic properties have been proposed for the ALS-linked SOD1 mutants, but the nature of the toxicity has not been clearly specified.

Prohibitin and cofilin are intracellular effectors of transforming growth factor beta signaling in human prostate cancer cells.

A proteomic analysis was pursued to identify new signaling effectors of transforming growth factor beta1 (TGF-beta1) that serve as potential intracellular effectors of its apoptotic action in human prostate cancer cells. The androgen-sensitive and TGF-beta-responsive human prostate cancer cells, LNCaP T beta RII, were used as in vitro model. In response to TGF-beta, significant posttranslational changes in two proteins temporally preceded apoptotic cell death.

Mitochondrial proteomic analysis of a cell line model of familial amyotrophic lateral sclerosis.

Mutations in copper-zinc superoxide dismutase (SOD1) have been linked to a subset of familial amytrophic lateral sclerosis (fALS), a fatal neurodegenerative disease characterized by progressive motor neuron death. An increasing amount of evidence supports that mitochondrial dysfunction and apoptosis activation play a critical role in the fALS etiology, but little is known about the mechanisms by which SOD1 mutants cause the mitochondrial dysfunction and apoptosis. In this study, we use proteomic approaches to identify the mitochondrial proteins that are altered in the presence of a fALS-causing mutant G93A-SOD1.

Identification of two novel mutations in the Cu/Zn superoxide dismutase gene with familial amyotrophic lateral sclerosis: mass spectrometric and genomic analyses.

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neurons. The majority of patients are sporadic cases, while 5-10% of the patients have a family history of ALS (fALS). Mutations in the gene that encodes cytoplasmic Cu/Zn superoxide dismutase (SOD1) have been identified in about 25% of fALS cases.

Clinical and pathological studies of familial amyotrophic lateral sclerosis (FALS) with SOD1 H46R mutation in large Japanese families.

We clarified the clinical and pathological aspects of familial amyotrophic lateral sclerosis (FALS) with SOD1 H46R heterozygous mutation in the Miyakonojo Basin, a region in southern Japan where the prevalence of ALS is 11.4 per 10(5) of the population. We studied 17 patients, including one autopsy case, in three FALS families with the mutation.

The efficacy of trientine or ascorbate alone compared to that of the combined treatment with these two agents in familial amyotrophic lateral sclerosis model mice.

One of the hypotheses regarding the pathogenesis of familial ALS (FALS) is a copper-mediated oxidative toxicity derived from the mutant Cu, Zn-superoxide dismutase (SOD1). We have previously demonstrated the efficacy of the combined treatment with a copper chelator (trientine) and an antioxidant (ascorbate) on the disease expression of the FALS-linked mutated SOD1 transgenic mice. Here, we investigated the efficacy of trientine or ascorbate alone on FALS mice when administered before or after the onset of the disease.