-
Yoshihiko Furusawa,
Madoka Mori-Yoshimura,
Toshiyuki Yamamoto,
Chikako Sakamoto,
Mizuki Wakita,
Yoko Kobayashi,
Yutaka Fukumoto,
Yasushi Oya,
Tokiko Fukuda, Hideo Sugie,
Yukiko K Hayashi,
Ichizo Nishino,
Ikuya Nonaka,
Miho Murata
[show abstract]
[hide abstract]
ABSTRACT: We examined the efficacy of 2-year enzyme replacement therapy (ERT) using recombinant human α-glucosidase (GAA; Myozyme®) in five long-term ventilator-dependent adults and aged patients with advanced, late-onset glycogen storage disease type II (GSDII, also known as Pompe disease). Although all patients had advanced respiratory failure and were ventilator-dependent for more than 6 years, four showed obvious improvements in muscle strength, pulmonary function, and activities of daily living after ERT. Improvement in each parameter was more prominent in the first year than in the second year. Values in the second year were still significantly better than those at study entry and indicate stabilization in the clinical status of all patients. These results suggest that ERT continues to be effective in the second year of treatment even in patients suffering from advanced late-onset GSDII disease with severe respiratory failure.
Journal of Inherited Metabolic Disease 03/2012; 35(2):301-10. · 3.58 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: No effective treatment for McArdle disease exists.We report a Japanese patient with McArdle disease who was treated with vitamin B(6) supplementation (60-90 mg/day). After treatment, increased muscle phosphorylase activity was confirmed by follow-up muscle biopsy (3.8 times higher than pretreatment levels). Increased lactate levels were seen on the forearm exercise test, and regular work activities could be resumed. Vitamin B(6) supplementation can enhance residual phosphorylase activity and improve insufficient anaerobic glycolysis of skeletal muscle.
Muscle & Nerve 03/2012; 45(3):436-40. · 2.37 Impact Factor
-
Seishin shinkeigaku zasshi = Psychiatria et neurologia Japonica 01/2012; 114(8):328-33.
-
[show abstract]
[hide abstract]
ABSTRACT: Diagnosis of adult-onset Pompe disease is sometimes challenging because of its clinical similarities to muscular dystrophy and the paucity of disease-specific vacuolated fibers in the skeletal muscle pathology. We describe two patients with adult-onset Pompe disease whose muscle pathology showed no typical vacuolated fibers but did show unique globular inclusions with acid phosphatase activity. The acid phosphatase-positive globular inclusions may be a useful diagnostic marker for adult-onset Pompe disease even when typical vacuolated fibers are absent.
Neuromuscular Disorders 12/2011; 22(5):389-93. · 2.80 Impact Factor
-
Sayuri Sukigara,
Wen-Chen Liang,
Hirofumi Komaki,
Tokiko Fukuda,
Takeshi Miyamoto,
Takashi Saito,
Yoshiaki Saito,
Eiji Nakagawa,
Kenji Sugai,
Yukiko K Hayashi, Hideo Sugie,
Masayuki Sasaki,
Ichizo Nishino
[show abstract]
[hide abstract]
ABSTRACT: Muscle glycogen storage disease 0 (GSD0) is caused by glycogen depletion in skeletal and cardiac muscles due to deficiency of glycogen synthase 1 (GYS1), which is encoded by the GYS1 gene. Only two families with this disease have been identified. We report a new muscle GSD0 patient, a Japanese girl, who had been suffering from recurrent attacks of exertional syncope accompanied by muscle weakness and pain since age 5 years until she died of cardiac arrest at age 12. Muscle biopsy at age 11 years showed glycogen depletion in all muscle fibers. Her loss of consciousness was gradual and lasted for hours, suggesting that the syncope may not be simply caused by cardiac event but probably also contributed by metabolic distress.
Neuromuscular Disorders 09/2011; 22(2):162-5. · 2.80 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: The patient was a 14-year-old male diagnosed with acute disseminated encephalomyelitis (ADEM) with acute onset of multifocal central nervous system symptoms. He showed increased cerebrospinal fluid cell counts and high myelin basic protein levels, which responded well to steroid pulse therapy. Spinal MRI showed a centrally-located long spinal cord lesion (LCL) involving 17 vertebral bodies from C2 to T11 that later expanded into the white matter, and lesions on the ventral side of the medulla. The cause of LCL has been reported to be heterogeneous. In this case, LCL is considered to be associated with ADEM, an acute autoimmune response to myelin, and vascular inflammation of the gray matter of the spinal cord.
Brain & development 07/2011; 34(5):380-3. · 1.74 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: A one-year-old boy with neuroblastoma (NBoma)-associated opsoclonus-myoclonus syndrome (OMS) was treated by oral high-dose dexamethasone (DEX) pulses (20 mg/m(2)/day of DEX for three consecutive days) every 28 days for 6 months after resection of the tumor. All OMS symptoms improved after the first course of DEX pulse therapy and disappeared after the last course. No adverse effects were observed. Minor deterioration of his developmental quotient was noted 33 months after the onset of the disease. NBoma remission has been maintained since treatment. Before DEX pulse therapy, frequency of T lymphocyte, in particular CD4-positive cell decreased markedly resulted in low CD4/8 ratio in the peripheral blood (PB). The frequency of B lymphocyte increased, especially in cerebrospinal fluid. These aberrant values in PB were reversed by DEX pulse therapy and correlated well with the neurological symptoms. A prospective study that assesses the efficacy of this promising and inexpensive treatment for OMS is warranted.
Brain & development 04/2011; 34(3):251-4. · 1.74 Impact Factor
-
Pediatrics International 02/2011; 53(1):129-30. · 0.63 Impact Factor
-
Tomie Muraoka,
Koji Murao,
Hitomi Imachi,
Fumi Kikuchi,
Takuo Yoshimoto,
Hisakazu Iwama,
Hitoshi Hosokawa,
Ichizo Nishino,
Tokiko Fukuda, Hideo Sugie,
Kaori Adachi,
Eiji Nanba,
Toshihiko Ishida
[show abstract]
[hide abstract]
ABSTRACT: A 17-year-old Japanese man was referred to our hospital because of highly elevated serum levels of creatine kinase (CK) and transaminases. On admission, the proximal muscles of the lower extremities were found to be predominantly affected, and a score of 3/5 was obtained on Medical Research Council (MRC) scale. Muscular atrophy was evident and Gowers' sign was positive. His functional vital capacity (FVC) was markedly reduced. The results of the third edition of the Wechsler Adult Intelligence Scale (WAIS-III) indicated impairment of the patient's intelligence. Muscle biopsy showed scattered intracytoplasmic vacuoles with basophilic amorphous materials inside which were strongly stained by both periodic acid Schiff (PAS) and acid phosphatase. Biochemical analysis of the muscle tissue confirmed the diagnosis of GSDII because the glucosidase activity was 1.0 nmol/4 MU/mg/30 min (control range, 7.3 ± 2.2). Genetic analysis revealed a novel compound heterozygous missense mutation in GAA--c.1814 G >A (p.Gly605Asp) and c.1846 G >A (p.Asp616Asn) both in exon 13.
Internal Medicine 01/2011; 50(24):2987-91. · 0.94 Impact Factor
-
Pediatrics International 06/2010; 52(3):e150-3. · 0.63 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Multiple genes are involved in the pathogenesis of autism. To study the causative gene, the relationship between autism endophenotypes and their closely related genes has been analyzed. There is a subgroup of autism spectrum disorder (ASD) in which the ratio of second digit length to fourth digit length (2D/4D) is low (short digit group, SDG). We studied the relationship between ASD and HOXD genes, which are located in the candidate locus for ASD and are associated with digit morphogenesis, with a particular focus on SDG. We analyzed 25 SNPs of HOXD11, HOXD12, and HOXD13 in the subject of 98 ASD, 89 healthy controls, and 16 non-autistic patients (non-ASD). There was no significant difference in the genotype frequencies between the ASD and the healthy controls. However, the G-112T heterozygote in the promoter region of HOXD11 was observed in only four patients with ASD and in none of the healthy controls or non-ASD subjects. Moreover, this HOXD11 G-112T was observed in three of 11 SDG with ASD but in none of the 15 non-SDG patients with ASD. There were eight SDG patients among the non-ASD ones, but this polymorphism was observed in none of them. Considering the above results, it is expected that candidate genes will be further identified, using HOXD11 G-112T polymorphism as a marker, by analyzing genes located near 2q in a larger number of ASD subjects with clinical signs of SDG.
Brain & development 07/2009; 32(5):356-61. · 1.74 Impact Factor
-
Aya Ohkuma,
Satoru Noguchi, Hideo Sugie,
May Christine V Malicdan,
Tokiko Fukuda,
Kunio Shimazu,
Luis Carlos López,
Michio Hirano,
Yukiko K Hayashi,
Ikuya Nonaka,
Ichizo Nishino
[show abstract]
[hide abstract]
ABSTRACT: Causative genes have been identified only in four types of lipid storage myopathies (LSMs): SLC22A5 for primary carnitine deficiency (PCD); ETFA, ETFB, and ETFDH for multiple acyl-coenzyme A dehydrogenation deficiency (MADD); PNPLA2 for neutral lipid storage disease with myopathy (NLSDM); and ABHD5 for neutral lipid storage disease with ichthyosis. However, the frequency of these LSMs has not been determined. We found mutations in only 9 of 37 LSM patients (24%): 3 in SLC22A5; 4 in MADD-associated genes; and 2 in PNPLA2. This low frequency suggests the existence of other causative genes. Muscle coenzyme Q(10) levels were normal or only mildly reduced in two MADD patients, indicating that ETFDH mutations may not always be associated with CoQ(10) deficiency. The 2 patients with PNPLA2 mutations had progressive, non-episodic muscle disease with rimmed vacuoles. This suggests there is a different pathomechanism from other LSMs.
Muscle & Nerve 03/2009; 39(3):333-42. · 2.37 Impact Factor
-
Seishin shinkeigaku zasshi = Psychiatria et neurologia Japonica 01/2009; 111(11):1397-1403.
-
[show abstract]
[hide abstract]
ABSTRACT: Distal myopathy is a group of heterogeneous disorders affecting predominantly distal muscles usually appearing from young to late adulthood with very rare cardiac complications. We report a 27-year-old man characterized clinically by distal myopathy and dilated cardiomyopathy, pathologically by lipid storage, and genetically by a PNPLA2 mutation. The patient developed weakness in his lower legs and fingers at age 20 years. Physical examination at age 27 years revealed muscle weakness and atrophy predominantly in lower legs and hands, and severe dilated cardiomyopathy. The patient had a homozygous four-base duplication (c.475_478dupCTCC) in exon 4 of PNPLA2.
Neuromuscular Disorders 08/2008; 18(8):671-4. · 2.80 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: We have identified a compound heterozygous mutation of PYGM in a Korean patient with McArdle disease, which is composed of a novel single codon deletion (p.779delE) and a common nonsense mutation (p.R50X). Our study also showed an evidence of nonsense-mediated mRNA decay (NMD) caused by p.R50X mutation, supporting the importance of RNA processing defects in the molecular pathology of McArdle disease.
Neuromuscular Disorders 08/2008; 18(11):886-9. · 2.80 Impact Factor
-
Brain and Development 02/2007; 29(1):56. · 2.12 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: The prenatal and neonatal factors of 225 children diagnosed with Autistic Disorder were compared with those of 1580 typically developing children. Each of the neonatal factors was compared between the Autistic Disorder and control groups, and between males and females. The results showed that males in the 'Autistic Disorder' group had a significantly longer gestational age and a heavier birth weight than the male controls. No significant differences in these factors were observed between females in the two groups. Both male and female children with Autistic Disorder showed a significantly higher incidence of neonatal complications than their respective controls. In the Autistic Disorder group, males had a heavier mean birth weight, and there were more post-term infants among females.
Autism 01/2006; 9(5):487-94. · 2.27 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: We studied the correlation between response to fluvoxamine and serotonin transporter gene promoter region polymorphism (5-HTTLPR). Eighteen children with autistic disorder completed a 12-week double-blind, placebo-controlled, randomized crossover study of fluvoxamine. Behavioral assessments were obtained before and at 12 weeks of treatment. 5-HTTLPR (long (l) or short(s)), was analyzed by the PCR method. Ten out of 18 patients responded to fluvoxamine treatment; allele type analysis revealed that clinical global effectiveness was noted significantly more in the l allele than in the s allele. However, with respect to language use, a significant effectiveness was noted in the s allele. 5-HTTLPR may influence the individual responses to fluvoxamine administration.
Journal of Autism and Developmental Disorders 07/2005; 35(3):377-85. · 3.34 Impact Factor
-
Pediatrics International 09/2004; 46(4):474-7. · 0.63 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: We report a 19-year-old woman who had a history of type 1 diabetes with recurrent glycogen accumulation in the liver. During her infantile period she presented with no hepatomegaly nor growth retardation. On admission she was diagnosed with diabetic ketoacidosis (DKA). She also had hepatomegaly and elevated transaminase levels, but these abnormalities had resolved after administration of insulin. However, 4 weeks after DKA marked hepatomegaly and elevated transaminases were reappeared with simultaneous hypoglycemia which suggested an impaired glycogenolysis in the extraordinary conditions. We supposed the partial deficiency of liver glycogen phosphorylase activity in this patient and analyzed the liver glycogen phosphorylase gene (PYGL). Deduced amino acid sequence of the PYGL in this patient was completely identical to that reported by Burwinkel et al. (Y15233), however, the nucleotide sequence of PYGL cDNA was heterozygous for substitutions at positions Asp339 (GAT to GAC) on exon 9 and Ala703 (GCT to GCC on exon 17, respectively. These SNPs were also screened in 51 Japanese normal subjects by PCR-based direct sequencing or PCR-RFLP method. The same genotype observed in this patient was detected in 2 of 51(3.9%) normal subjects. These results suggest that the structure of PYGL coding sequence in this patient is unlikely to account for her excessive liver glycogen accumulation. Further studies including genetic analysis on the promoter region of the gene are necessary to clarify the etiology of susceptibility to excessive liver glycogen storage in patients with type 1 diabetes.
Diabetes Research and Clinical Practice 09/2004; 65(2):175-82. · 2.75 Impact Factor
