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  • 1
    Electronic Resource
    Electronic Resource
    A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 353-356 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract X-linked hydrocephalus (HSAS) is the most common form of inherited hydrocephalus characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, mental retardation, clasped thumbs, and spastic paraparesis. MASA syndrome (mental retardation, aphasia, shuffling gait and adducted thumbs) and SPG1 (X-linked complicated spastic paraplegia) are also X-linked disorders with overlapping clinical signs. Linkage analysis studies implicated the neural cell adhesion molecule L1 (L1CAM) gene as a candidate gene for these X-linked disorders. This genetic study analyzes the L1CAM gene in a Japanese family with members suffering from HSAS, and describes a deletion of five nucleotides in exon 8. Screening by Bg1I digestion of polymerase chain reaction (PCR) products revealed that two siblings have the same mutation and a sister was identified as a heterozygous carrier. The 5 nucleotide deletion causes a shift of the reading frame and introduces a premature stop codon 72 nucleotides downstream, which might result in a truncated protein. The mutation identified herein is a novel L1CAM mutation, which triggers hydrocephalus. We report a unique L1CAM mutation that causes HSAS: the first report of such a mutation in a Japanese family.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050049
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 496-499 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We report a missense mutation in an adult Japanese patient with acid alpha-glucosidase (GAA) deficiency. A TC to GT transition at nucleotides 1585–1586, was identified. This transition resulted in an amino acid substitution of Ser-529 to Val (S529V) in exon 11. We also have demonstrated that the S529V mutation abolishes the catalytic activity of the enzyme. Our data suggest that this mutation is the cause of the clinical manifestation known as adult-onset GAA deficiency. The missense mutation described here is a new mutation, and the first identified in Japanese patients with GAA deficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050080
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Intracranial calcification in siblings with nephrogenic diabetes insipidus: CT and MRI (1993)
    Springer
    Neuroradiology 35 (1993), S. 553-555 
    Details
    ISSN: 1432-1920
    Keywords: Nephrogenic diabetes insipidus ; Intracranial calcification ; Brain damage ; Computed tomography ; Magnetic resonance imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Computed tomography and magnetic resonance imaging (MRI) were used to examine three male siblings with nephrogenic diabetes insipidus (NDI). The two elder brothers had verying degrees of unusual intracranial calcification; the eldest also showed involvement of the cerebral white matter on MRI. The severity of intracranial calcification was related to the time before initiation of treatment and inversely to mental ability. Brain damage and mental retardation in NDI may be caused by a delay in initiating treatment; early detection and treatment are important to prevent brain damage.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00588723
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  • 4
    Electronic Resource
    Electronic Resource
    Ceramide accumulation is associated with increased apoptotic cell death in cultured fibroblasts of sphingolipid activator protein-deficient mouse but not in fibroblasts of patients with Farber disease (1999)
    Springer
    Journal of inherited metabolic disease 22 (1999), S. 649-662 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Ceramide is recognized as an intracellular mediator of cell growth, differentiation and apoptosis. Tumour necrosis factor, anti-fas antibody, radiation and anticancer drugs such as actinomycin D are known to induce apoptosis in several cell types through generation of ceramide by activation of the sphingomyelinase pathway or ceramide synthetase. In this study, we examined the occurrence of apoptosis in fibroblasts from patients with Farber disease and from sphingolipid activator protein-deficient (sap−/−) mouse. These cells accumulate ceramide as the result of genetic deficiency of acid ceramidase and the ceramidase activator (sap-D), respectively. Amounts of ceramide in fibroblasts from Farber patients and in fibroblasts from sap−/− mouse were increased 2.9-fold and 2.8-fold, respectively, over the level of controls. Despite the similar degree of ceramide accumulation, cells exhibiting apoptotic features were increased only in fibroblasts from the sap−/− mouse but not those from the Farber patients. Thymidine uptake of Farber fibroblasts was normal while that of sap−/− mouse fibroblasts was twice normal, consistent with the apparently normal growth and the different rates of apoptotic cell death in these two cell lines. These data suggest that intralysosomal accumulation of ceramide due to defective acid ceramidase or its activator may not play an important role as a mediator of apoptosis. The increased apoptosis in the cultured fibroblasts from the sap−/− mouse may be caused by mechanisms other than the ceramide accumulation. Although more frequent than normal, significant apoptotic cell death was not observed in sap−/− mouse brain in vivo.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005590316064
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    Paper (German National Licenses)
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