Clinical effects of probiotic Bifidobacterium longum BB536 on immune function and intestinal microbiota in elderly patients receiving enteral tube feeding.

Background: Immune system function declines with age. We evaluated the effects of supplementation with the probiotic Bifidobacterium longum BB536 on immune function and intestinal microbiota in the elderly.

Materials And Methods: In a double-blind study, 45 elderly patients fed by enteral tube feeding (mean [SD] age 81.

Brain region-specific gene expression activation required for reconsolidation and extinction of contextual fear memory.

During fear conditioning, animals learn an association between a previously neutral or conditioned stimulus (CS) and an aversive or unconditioned stimulus (US). Subsequent reexposure to the CS alone triggers two competing processes. Brief reexposure to the CS initiates reconsolidation processes that serve to stabilize or maintain the original CS-US memory.

Selective cauda equina hypertrophy with idiopathic inflammation.

A 20-year-old woman with selective cauda equina hypertrophy presented with muscle weakness and severe pain in the lower extremities. Serial immunotherapy was not effective. We performed biopsy of the cauda equina, and laminectomy and duraplasty of the thoracolumbar region.

Association between metallothionein genes polymorphisms and sporadic amyotrophic lateral sclerosis in a Japanese population.

Amyotrophic lateral sclerosis (ALS) is a progressive, lethal neurodegenerative disease that selectively affects motor neurons. Reactive oxygen species (ROS) are assumed to be involved in the pathogenesis of ALS. Metallothioneins (MTs) are self-protective, multifunctional proteins that scavenge ROS.

[A case of non-herpetic acute encephalitis with autoantibodies for ionotropic glutamate receptor delta2 and epsilon2].

We report a 45-year-old woman admitted to our hospital due to fever, consciousness disturbance, and severe seizures. Based on her signs and symptoms and clinical course, a diagnosis of non-herpetic acute encephalitis was made. She received antibiotic drugs, acyclovir, gamma-globulin, and steroid pulse therapy (methylprednisolone 1 g/day, 3 days).

[A case of meningeal carcinomatosis due to the ethmoid sinus mucoepidermoid carcinoma].

We report here a 65-year-old man with ptosis, diplopia, and progressive lower limb muscle weakness without nasal symptoms. CA19-9 and CEA were elevated in the serum and cerebrospinal fluid (CSF), but Squamous Cell Carcinoma Antigen (SCC) was not. CA19-9-positive atypical cells were found in the CSF.

[Diagnosis of adult type of Niemann-Pick disease (type C) in two brothers by filipin staining of bone marrow smears].

Niemann-Pick disease, type C (NPC) is a neurometabolic genetic disorder that is distinguished from other types of Niemann-Pick disease by its later onset, more insidious progression, variable visceromegaly, and abnormalities of intracellular cholesterol metabolism. We report cases in 18-year-old and 20-year-old brothers who presented with disinhibition and involuntary movement of their hands. Both brothers presented various signs such as dementia, vertical supranuclear ophthalmoplegia (VSO), dysarthria, axial and limb dystonia, hyperreflexia, pathologic reflex, cerebellar ataxia, as reported.

[A patient with distal muscular dystrophy without mutations in dysferlin gene but with abnormal dysferlin localization in muscle fibers].

We report a 40-year-old man who noticed difficulty in standing on his tiptoe from approximately 36 years-old. He presented with selective calf muscle weakness on flexion. The serum creatine kinase (CK) level slightly increased to 569IU/l.

Polyglutamine repeats of spinocerebellar ataxia 6 impair the cell-death-preventing effect of CaV2.1 Ca2+ channel--loss-of-function cellular model of SCA6.

Spinocerebellar ataxia (SCA) 6 is caused by small expansion of a polyglutamine sequence, encoded by CAG trinucleotide repeats, at the C-terminal end of the human CaV2.1 (P/Q-type) Ca2+ channel alpha12.1 subunit and it manifests itself as slowly progressive cerebellar ataxia.

Marked asymmetry of putaminal pathology in an MSA-P patient with Pisa syndrome.

We report on an autopsy case of a 62-year-old Japanese woman with a 2.5-year history of axial dystonia. She presented with a form of axial dystonia reminiscent of Pisa syndrome.

A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family.

We report a Japanese family with acetazolamide-responsive episodic ataxia. The proband was a 41-year-old woman with interictal nystagmus. She experienced recurrent attacks of loss of equilibrium and loss of coordination of the extremities accompanied by dysarthria and nausea beginning at about 10 years old.

Reduced voltage sensitivity of activation of P/Q-type Ca2+ channels is associated with the ataxic mouse mutation rolling Nagoya (tg(rol)).

Recent genetic analyses have revealed an important association of the gene encoding the P/Q-type voltage-dependent Ca(2+) channel alpha(1A) subunit with hereditary neurological disorders. We have identified the ataxic mouse mutation, rolling Nagoya (tg(rol)), in the alpha(1A) gene that leads to a charge-neutralizing arginine-to-glycine substitution at position 1262 in the voltage sensor-forming segment S4 in repeat III. Ca(2+) channel currents in acutely dissociated Purkinje cells, where P-type is the dominant type, showed a marked decrease in slope and a depolarizing shift by 8 mV of the conductance-voltage curve and reduction in current density in tg(rol) mouse cerebella, compared with those in wild-type.

Variation in the number of CAG repeats in the Machado-Joseph disease gene (MJD1) in the Japanese population.

Variation in the number of CAG repeats in the Machado-Joseph disease gene (MJD1) was examined by polymerase chain reaction and denaturing polyacrylamide gel electrophoresis analysis of 2134 normal and 135 affected chromosomes of Japanese individuals. The number of repeats ranged from 14 to 47 in normal alleles and from 61 to 84 in disease-associated alleles. The most frequent and lowest number of repeats was 14.

The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1).

The effect of CAT trinucleotide interruptions in the CAG trinucleotide repeats of the SCA1 gene on the age at onset of spinocerebellar ataxia type 1 (SCA1) was investigated. The number of CAG repeats in SCA1 was determined by polymerase chain reaction (PCR) analysis, and the presence of CAT interruptions was assessed on the basis of the sensitivity of the PCR products to the restriction endonuclease SfaNI, which recognises CAT trinucleotides. Only one in 17 expanded SCA1 alleles from 17 SCA1 patients was interrupted by CAT.

Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6.

Spinocerebellar ataxia 6 (SCA6) is caused by expansion of a polyglutamine stretch, encoded by a CAG trinucleotide repeat, in the human P/Q-type Ca(2+) channel alpha(1A) subunit. Although SCA6 shares common features with other neurodegenerative glutamine repeat disorders, the polyglutamine repeats in SCA6 are exceptionally small, ranging from 21 to 33. Because this size is too small to form insoluble aggregates that have been blamed for the cause of neurodegeneration, SCA6 is the disorder suitable for exploring the pathogenic mechanisms other than aggregate formation, whose universal role has been questioned.

Spinocerebellar ataxia type 6 in relation to CAG repeat length.

Unlabelled: The purpose of the present study was to assess the relationship between clinical characteristics of spinocerebellar ataxia type 6 (SCA6) and CAG repeat length.

Materials And Methods: We examined clinical symptoms of 54 patients with SCA6. CAG repeat length was compared among subgroups divided by clinical manifestations.

[A sporadic case of spinocerebellar ataxia 6 (SCA 6) with large CAG expansion of the CACNL1A4 gene].

We reported a 73-year-old woman of spinocerebellar ataxia 6 (SCA 6). There was no family history of neurological diseases. She demonstrated cerebellar ataxia and scanning speech at the age of 48.

Characteristic magnetic resonance imaging findings in spinocerebellar ataxia 6.

Objective: To clarify the characteristic magnetic resonance imaging (MRI) findings in patients with spinocerebellar ataxia 6 (SCA6) diagnosed by genetic analysis.

Patients And Methods: Using MRI, we examined 10 patients genetically diagnosed as having SCA6 and 40 control subjects.

Results: The mean (+/-SD) CAG repeat length in 10 patients with SCA6 was 22.

Spinocerebellar ataxia type 6: MRI of three Japanese patients.

We describe the MRI findings in three Japanese patients with spinocerebellar ataxia type 6 (SCA6) in which a polymorphic CAG repeat was identified in the gene encoding the alpha 1A voltage-dependent P/Q-type Ca2+ channel subunit (CACNL1A4). All showed slowly progressive cerebellar ataxia and mild pyramidal signs. Neuroradiologically, they had moderate cerebellar atrophy, most prominently in the superior vermis, whereas the brain stem appeared to be spared.

A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G.

We investigated a patient with mitochondrial myopathy accompanied by cardiomyopathy. Molecular analysis disclosed a C-to-G substitution at nucleotide position 3254 of the mitochondrial tRNA(Leu)(UUR). Pedigree analysis revealed that this mutation was inherited maternally.

Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6).

Spinocerebellar ataxia 6 (SCA6) is an autosomal dominant spinocerebellar degeneration caused by the expansion of the polymorphic CAG repeat in the human alpha1A voltage-dependent calcium channel subunit gene (CACNL1A4 gene). We have analyzed 60 SCA6 individuals from 39 independent SCA6 Japanese families and found that the CAG repeat length is inversely correlated with the age of onset (n = 58, r = -0.51, P < 0.

Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease.

Machado--Joseph disease (MJD) is an autosomal dominant spinocerebellar degeneration mapped to chromosome 14q32.1. The CAG expansions of the MJD1 gene was identified as the cause of the disease.

[A case of idiopathic superficial siderosis of the central nervous system].

A 59-year-old man developed a staggering and wide based-gait in July 1990. Dysarthria, hearing loss, vexation and disturbance of memory appeared in January 1991. He consulted our clinic in May 1991, and cerebellar ataxia, neurogenic bladder, and cerebellar atrophy on brain CT were noted.