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  • 1
    Electronic Resource
    Electronic Resource
    Relationship of (CAG)nC configuration to repeat instability of the Machado-Joseph disease gene (1996)
    Springer
    Human genetics 〈Berlin〉 98 (1996), S. 643-645 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The mutation responsible for Machado-Joseph disease (MJD) has been identified as an expansion of a CAG trinucleotide repeat in a novel gene on chromosome 14q32.1. The CAG repeat tract is followed by C or G, and alleles are thereby divided into two types on the basis of molecular configuration, (CAG)nC and (CAG)nG. We have studied the relationship between the repeat length and the configuration in 38 patients from 28 Japanese families with MJD, and 31 unrelated normal Japanese subjects. The CAG repeat length in 100 normal alleles ranged from 13 to 37 repeats, while 38 MJD patients had one expanded allele with 64 to 84 repeats. Surprisingly, the expanded alleles had exclusively the (CAG)nC configuration, while both (CAG)nC and (CAG)nG were seen in normal alleles from MJD and control subjects. Furthermore, in normal alleles, the CAG repeat tract was significantly longer in (CAG)nC than in (CAG)nG. These findings suggest that the (CAG)nC configuration is related to repeat instability of the MJD gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050276
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  • 2
    Electronic Resource
    Electronic Resource
    Ceruletide therapy in action tremor following thalamic hemorrhage (1993)
    Springer
    Journal of neurology 240 (1993), S. 144-148 
    Details
    ISSN: 1432-1459
    Keywords: Ceruletide ; Cholecystokinin ; Thalamic tremor ; Action tremor ; Posteroventral lateral nucleus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two men, aged 63 and 71 years, developed a gross action tremor and dysesthesias several months after an intracerebral hemorrhage. CT and MRI showed a small hemorrhage in the posterior region of the lateral nucleus of the thalamus in each patient. The tremor occurred on movement, had frequencies of 2.5-4.5 Hz and the amplitude varied depending on the joint position of the limb. Ceruletide (a cholecystokinin analog) 0.8 μg/kg i.m. produced a marked reduction in the action tremor and improved motor function. This effect appeared 10 15 min after the injection, and lasted for up to 4 weeks. It is suggested that ceruletide may be of value in the treatment of action tremors following a thalamic lesion.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00857518
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Sweat function in Parkinson's disease (1994)
    Springer
    Journal of neurology 241 (1994), S. 573-576 
    Details
    ISSN: 1432-1459
    Keywords: Axon reflex ; Ceruletide ; Parkinson's disease ; Sweat function ; Sympathetic skin response
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Sweat function was studied in patients with Parkinson's disease and in normal adults by sympathetic skin response, the bromphenol blue printing method and the silicone mould method. In patients with Parkinson's disease, dysfunction of sweating was classified into two types: one type involved the postganglionic fibres and the other involved the preganglionic fibres or the central nervous system. The latter was observed in patients with milder disease and the former was observed in patients with severe disease. The progressive involvement of sweat function in Parkinson's disease may reflect spread from the central nervous system or preganglionic fibres to postganglionic fibres. In a few patients the results of sweat tests were normal. Ceruletide increased sweating in Parkinson's disease patients, and decreased the prolonged latency of the sympathetic skin response. It is hypothesized that ceruletide facilitates the preserved somatosympathetic reflex of sweating.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00920619
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  • 4
    Electronic Resource
    Electronic Resource
    Autosomal dominant cerebellar ataxias in the Kinki area of Japan (1996)
    Springer
    Journal of human genetics 41 (1996), S. 399-406 
    Details
    ISSN: 1435-232X
    Keywords: trinucleotide repeat ; CAG repeat ; spinocerebellar ataxia type 1 ; Machado-Joseph disease ; dentatorubral-pallidoluysian atrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The autosomal dominant cerebellar ataxias are a heterogeneous group of neurodegenerative disorders characterized by slowly progressive cerebellar ataxia. Recently, among the ataxias, spinocerebellar ataxia type 1 (SCA1), Machado-Joseph disease (MJD) and dentatorubral-pallidoluysian atrophy have been found to be caused by expansion of a CAG trinucleotide repeat in the coding region of the disease genes. We have analyzed the CAG repeats of 67 patients from 47 families with dominantly inherited ataxia who lived in the Kinki area of Japan. The following results were obtained. First, 31 patients from 22 families were found to be positive for the MJD repeat expansion, indicating that MJD is the most common dominantly inherited ataxia in the Kinki area of Japan. Second, no SCA1 repeat expansion was found among the families studied. This presents a striking contrast to the fact that there are many families with SCA1 in Hokkaido and the Tohoku area of Japan. These findings suggest geographic variation in autosomal dominant cerebellar ataxias in Japan.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01876330
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  • 5
    Electronic Resource
    Electronic Resource
    Preclinical detection in Japanese families with myotonic dystrophy using polymorphic DNA markers (1989)
    Springer
    Journal of human genetics 34 (1989), S. 189-194 
    Details
    ISSN: 1435-232X
    Keywords: myotonic dystrophy ; DNA diagnosis ; apolipoprotein CII (APOC2) ; D19S19 ; restriction fragment length polymorphisms (RFLPs)
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Myotonic dystrophy (DM) is a genetic disease inherited by an autosomal dominant trait and characterized by multi-organ disorders. Although its biochemical basis has been unknown, the DM locus is closely linked to D19S19 and APOC2 on the long arm of chromosome 19 both in Japanese and Caucasian populations. Linkage studies of Japanese DM families using these polymorphic DNA markers detected two asymptomatic gene carriers in two unrelated families.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01900720
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    Paper (German National Licenses)
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  • 6
    Electronic Resource
    Electronic Resource
    An electron microscopic study of intimal cushions in intracranial arteries of the cat (1972)
    New York, NY [u.a.] : Wiley-Blackwell
    American Journal of Anatomy 133 (1972), S. 415-429 
    Details
    ISSN: 0002-9106
    Keywords: Life and Medical Sciences ; Cell & Developmental Biology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Medicine
    Notes: Subendothelial protuberances associated with the tunica intima have been described by light microscopy at branching sites of arteries in various animal species. These structures are termed intimal cushions or intimal pads. Some investigators regard them as being pathologic, preceding the appearance of atherosclerosis in the vessel wall. This fine structural study was done because of the possible role of intimal cushions in the regulation of cerebral blood flow at branching sites of intracranial arteries. The internal elastic lamina is split at the margins of a cushion to enclose irregularly arranged bundles of smooth muscle cells and collagenous fibrils. These smooth muscle cells are generally arranged at a right angle to smooth muscle cells in the underlying media. The outermost layer of the internal elastic lamina forms a boundary between the body of the cushion and the media; however, areas of discontinuity cause this border to be poorly defined in some instances. Perivascular autonomic nerves do not extend into either media or intimal cushions. Intercellular contacts between smooth muscle cells are observed within cushions as well as in the media, suggesting that cushions may be contractile and capable of modifying cerebral blood flow.
    Additional Material: 1 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/aja.1001330405
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