A 50-year-old man had been well until three months earlier, when he felt general fatigue, and cutaneous rash with itching. Thereafter a general muscular weakness developed and the patient could not walk for a month. Four weeks before referral to our hospital, he had high fever and could not role over in the bed. On admission, the patient was able to walk. He had no skin rash. Neurologically, he showed mild weakness in proximal muscles. Hematologic examination showed mild eosinophilia and serum creatine kinase was mildly elevated. Needle electromyogram revealed a diffuse myogenic pattern in extremities. Eosinophilic myositis was diagnosed by a biopsy of the left calf muscle showing mild infiltration of eosinophilis which was identified using antibodies against eosinophilic granule protein.

Autoantibodies↗

PubMed2001

[A case of Churg-Strauss syndrome after corticosteroid withdrawal manifesting mononeuritis multiplex and gastrointestinal perforations].

We report a case of a 70-year-old man who developed Churg-Strauss syndrome (CSS), diagnosed by characteristic histological findings, clinical presentations of mononeuritis multiplex, and multiple small intestinal ulcers with perforations, after discontinuation of corticosteroid therapy. The patient had developed asthma at age of 45, treated with oral prednisolone (10-20 mg daily) from that time. At the age of 70 he developed pneumonia. The condition responded to antibiotics, and the corticosteroid was quickly tapered and discontinued. He was never given leukotriene receptor antagonists during the course of treatment. Approximately two weeks after discontinuation of steroid therapy, he developed severe abdominal pain and mononeuritis multiplex, confirmed by nerve conduction studies. Laboratory evaluation revealed an eosinophil count of 30,450/microliter, and P-antineutrophil cytoplasmic antibody (ANCA) was positive. An abdominal CT scan revealed free air in the abdominal cavity. Laparotomy revealed multiple small intestinal ulcers with perforations. Histologic examination of the intestine showed eosinophilic vasculitis and fibrinoid necrosis. Treatment with systemic corticosteroid (prednisolone 60 mg daily) led to a clinical improvement of neurological and gastroenterological deficits. The prednisolone dose was tapered to 20 mg daily without disease flares. Recently, there have been several reports of CSS that manifested after withdrawal of steroid therapy. CSS can be precipitated in patients with adult-onset, steroid-dependent bronchial asthma after corticosteroid withdrawal.

Aged↗

PubMed2000

De novo expansion of a CAG repeat in a Japanese patient with sporadic Huntington's disease.

A 49-year-old man was admitted to our hospital complaining of dysarthria and involuntary movements of his neck and extremities. He had first begun to experience involuntary neck movements at the age of 40 and his symptoms gradually progressed thereafter. There was no family history of neurological disorders. On admission he showed memory disturbance, dysarthria, and choreic movements. The involuntary movements affected his face, neck, trunk, and extremities. MRI of the brain revealed atrophy of both the cerebral cortex and the head of the caudate nucleus. DNA samples for molecular analysis were obtained from the patient and both of his parents. In this pedigree, the father carried a premutated allele of 35 CAG repeats and transmitted an expanded allele of 43 CAG repeats to his son. Paternity and maternity were analyzed using a microsatellite marker located in a different chromosome. To our knowledge, this is the first report of a sporadic case of Huntington's disease in a non-caucasian population in which the disease prevalence is much lower than that in the caucasian population. A new mutation in the current Japanese population which shares the same mechanism as de novo mutation in Caucasians may have contributed to the frequency of HD in Japan at the present time.

Age of Onset↗

PubMed2000

Cross-cultural traits for personality of patients with Parkinson's disease in Japan.

Recent studies suggest that Parkinson's disease (PD) is associated with particular personality traits. Using Cloningers's Tridimensional Personality Questionnaire (TPQ), Menza and colleagues [1993: Neurology 43:505-508] reported a possible association between PD and a reduced score in the novelty seeking (NS) dimension of the TPQ. We sought to determine whether this association, which was found in a study conducted in the United States, could also be found among Japanese PD patients. We performed personality assessments of 67 Japanese PD patients, using the TPQ test. The results suggest that Japanese PD patients have significantly lower scores in the NS dimension of the TPQ, as well as significantly higher harm avoidance (HA) scores, compared with matched control subjects. Furthermore, the PD patients undergoing treatment for depression using antidepressant drugs scored significantly higher in the HA dimension than PD patients who did not receive antidepressant drug treatment. Our results suggest that the high HA score, and the low NS score in the TPQ test observed in patients with PD, is a cross-cultural phenomenon, although the influence of depression, long-term treatment, and premorbid gene/environmental interactions may also affect these personality traits. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:1-3, 2000.

Aged↗

PubMed2000

Clinical improvement following interferon-alpha alone as an initial treatment in CIDP.

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Adult↗

PubMed2000

Autoimmunity to gephyrin in Stiff-Man syndrome.

Stiff-Man syndrome (SMS) is a rare disease of the central nervous system (CNS) characterized by chronic rigidity, spasms, and autoimmunity directed against synaptic antigens, most often the GABA-synthesizing enzyme glutamic acid decarboxylase (GAD). In a subset of cases, SMS has an autoimmune paraneoplastic origin. We report here the identification of high-titer autoantibodies directed against gephyrin in a patient with clinical features of SMS and mediastinal cancer. Gephyrin is a cytosolic protein selectively concentrated at the postsynaptic membrane of inhibitory synapses, where it is associated with GABA(A) and glycine receptors. Our findings provide new evidence for a close link between autoimmunity directed against components of inhibitory synapses and neurological conditions characterized by chronic rigidity and spasms.

Animals↗

PubMed2000

Immunohistochemical staining of dystrophin on formalin-fixed paraffin-embedded sections in Duchenne/Becker muscular dystrophy and manifesting carriers of Duchenne muscular dystrophy.

We succeeded in immunostaining of monoclonal anti-dystrophin antibodies on formalin-fixed and paraffin-embedded muscle sections from patients with Duchenne muscular dystrophy, patients with Becker muscular dystrophy, and manifesting carriers of Duchenne muscular dystrophy using Catalyzed Signal Amplification(TM) system. The Catalyzed Signal Amplification system is an extremely sensitive immunohistochemistry staining procedure based on the peroxidase-catalyzed deposition of a biotinylated phenolic compound. We used three mouse monoclonal antibodies: DYS1, DYS2, and DYS3. Muscle sections were treated using the Target Retrieval Solution(TM) and the Catalyzed Signal Amplification system. In control patients, DYS1 and DYS2 were stained at the sarcolemma, but DYS3 remained unstained. In Duchenne muscular dystrophy patients, DYS1 and DYS2 staining were undetected. In Becker muscular dystrophy patients, the immunolabeling of DYSI and DYS2 were weak and discontinuous. In manifesting carriers of Duchenne muscular dystrophy, DYS1 and DYS2 staining showed a mosaic pattern of dystrophin-positive fibers and dystrophin-negative fibers. DYS1 and DYS2 staining patterns of this study are similar to those of frozen sections using conventional methods previously reported. In cases from whom frozen muscle sections cannot be obtained, immunohistochemical dystrophin analysis using the Catalyzed Signal Amplification system will be beneficial for the diagnosis and the screening of neuromuscular diseases.

3,3'-Diaminobenzidine↗

PubMed2000

Ataxic form of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).

We reported a 64-year-old male with an eight-month history of gait disturbance and sensory impairment. The patient initially noticed unsteadiness of gait and numbness in his feet, and these symptoms progressed until he was unable to walk without assistance five months later. Vibratory sensation and position sense were markedly diminished, and deep tendon reflexes were absent in all extremities. Motor conduction velocities were slow with prolonged distal latencies, and sensory nerve action potentials (SNAP) were not elicited. Sural nerve biopsy revealed a mild loss of myelinated fibres and segmental demyelination. Cerebrospinal fluid showed normal cell count with protein 526 mg/dL. Anti-GM1, anti-GM2 and anti-GA1 antibodies in serum were positive. We diagnosed chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) presenting ataxia. Steroid therapy provided immediate improvement of symptoms and signs. This case suggests that CIDP should be considered as one of the potential causes of ataxic neuropathy.

Ataxia↗

PubMed2000

Sensory ataxic dominant neuropathy associated with polyarteritis nodosa.

A 68-year-old man with sensory ataxic dominant neuropathy associated with polyarteritis nodosa (PAN) had deep sensory disturbance with unsteady gait and absence of the Achilles tendon reflex. Examination revealed weight loss, elevated CRP level, negative antineutrophil cytoplasm antibodies, decreased M-wave amplitude in the peroneal motor nerve and absence of action potentials in the sural sensory nerve. Sural nerve biopsy revealed a marked loss of myelinated fibers, myelin ovoid formation and necrotizing angiitis of large epineurial arterioles. Renal biopsy revealed global and/or segmental necrotizing angiitis in glomeruli, but not in the arcuate artery. These pathological findings were distinct from those of PAN, particularly microscopic polyangiitis (MPA). Treatment with a steroid improved the deep sensory disturbance, unsteady gait, and CRP level. This case is similar to ataxic neuropathy which can arise from various disorders. This is the first report of a case of sensory ataxic dominant neuropathy associated with MPA in PAN.

Action Potentials↗

PubMed2000

Hyperglycemia exacerbates the effect of ischemia-reperfusion on peripheral nerve in rat.

Ischemia-reperfusion is known to induce generation of oxygen free radicals (OFRs), thereby resulting in tissue damage. To clarify the pathogenesis of diabetic neuropathy, we examined whether hyperglycemia exacerbates the effects of ischemia-reperfusion on peripheral nerves. Using light microscopy, characteristic pathological changes seen in myelin and axons of nerve fibers were classified into two types: "loose myelin" and "dark axon," respectively. After a 2-hour ischemia and 24-hour reperfusion of sciatic nerves of rats, the concentrations of lipid peroxide and "loose myelin" in the nerves were significantly increased in the diabetic rats, but not in the nondiabetic rats. Thereafter, "dark axon" was significantly increased in both diabetic and nondiabetic rats. "Loose myelin" may be increased as a result of the effects of OFRs produced by ischemia-reperfusion, which are exacerbated by hyperglycemia.

Animals↗

PubMed1999

Acute exercise causes mitochondrial DNA deletion in rat skeletal muscle.

The present study was conducted to determine the effects of acute overload exercise on mitochondrial DNA and the structure of skeletal muscles. Rats were forced to run for 20 min until reaching complete exhaustion. We detected the large-scale deletion (7052 bp) of mitochondrial DNA by the nested polymerase chain reaction, and also observed mitochondrial ultrastructural changes in the soleus muscle.

Animals↗

PubMed1999

Pustulosis palmaris et plantaris associated with peripheral neuropathy.

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Humans↗

PubMed1999

Immunostaining of dystrophin using catalyzed signal amplification.

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Catalysis↗

PubMed1999

Association between polymorphism of the cholecystokinin gene and idiopathic Parkinson's disease.

Parkinson's disease (PD) is characterized by major alterations of neurotransmitter activity due to damage of the substantia nigra. Changes in neuropeptide concentration within the basal ganglia may play an important role in the putative dopaminergic-peptidergic interactions associated with the disease. Cholecystokinin (CCK) modulates the release of dopamine in the mesolimbic pathway and affects dopamine-related behavior. We analyzed genetic variations in the CCK gene, in both the coding and promoter region, in order to investigate the role of polymorphism in idiopathic PD. Four polymorphic sites of the CCK gene (-196G/A, -45C/T, 1270C/G, 6662C/T) were found in PD patients and controls. Complete linkage disequilibrium was observed between the -45 locus and the 1270 locus, and also a possible linkage disequilibrium was found between the -45 and -196 loci. A significant difference was found in the distributions of three identified genotypes at the -45 locus between 116 PD patients and 95 age-matched control subjects (chi2 = 7.95, p = 0.018, Bonferroni correction; p = 0.054). In addition, a significant difference was obtained amongst the three genotypic groups at the -45 locus when compared between PD patients who experienced hallucinations (n = 23) and those (n = 93) who did not (chi2 = 8.08, p = 0.018, Bonferroni correction, p = 0.126). Our data suggested that mutations at the -45 locus in the promoter region of the CCK gene may influence vulnerability to hallucinations in PD patients treated with L-dopa.

Age of Onset↗