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  • 11
    Electronic Resource
    Electronic Resource
    Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 151-154 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The crossover breakpoints for Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are located in the CMT1A-REP repeat flanking a 1.5-Mb region of chromosome 17p11.2–12. The precise locations of the breakpoints are heterogeneous, and we analyzed the relative frequency distribution of breakpoints in 33 unrelated Japanese CMT1A and 3 unrelated HNPP families. The CMT1A-REP repeat region was divided into five regions, A, B, C, D and E, based on restriction site differences between the proximal and distal CMT1A-REP repeats. The frequency distribution of breakpoints within the CMT1A-REP repeat in the Japanese patients was 3% in region A, 78% in B/C and 19% in D, which is similar to that in Caucasian patients. This result also indicates that an 8-kb region defined by region B/C is a recombinational hotspot within the CMT1A-REP repeat in Japanese patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050330
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    Paper (German National Licenses)
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  • 12
    Electronic Resource
    Electronic Resource
    Acquired idiopathic generalized anhidrosis: a distinctive clinical syndrome (1988)
    Springer
    Journal of neurology 235 (1988), S. 428-431 
    Details
    ISSN: 1432-1459
    Keywords: Anhidrosis ; Hypohidrosis ; Sweat gland ; Ventilated capsular method ; IgE
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The present study concerns a 28-year-old Japanese man with acquired generalized anhidrosis. The patient's ability to perspire was investigated in an artificial climate room maintained at 40°C and 40% humidity. Although the body temperature rose to 38°C, the patient did not sweat. Neither did sweating occur when the patient was given an intradermal injection of pilocarpine or nicotine. The serum IgE level was elevated. Atrophy and degeneration of the sweat glands, as well as infiltration by lymphocytes and mast cells around the sweat glands, were observed in skin biopsies. Anhidrosis in this patient was suggested to be the result of reduced function of the sweat glands themselves with possible underlying immunemediated basis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00314488
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    Paper (German National Licenses)
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  • 13
    Electronic Resource
    Electronic Resource
    Possible mechanism of anhidrosis in a symptomatic female carrier of Fabry's disease: an assessment by skin sympathetic nerve activity and sympathetic skin response (1996)
    Springer
    Clinical autonomic research 6 (1996), S. 107-110 
    Details
    ISSN: 1619-1560
    Keywords: Fabry's disease ; symptomatic female carrier ; anhidrosis ; skin sympathetic nerve activity ; sympathetic skin response
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Fabry's disease, X-linked α-galactosidase deficiency, features a variety of autonomic abnormalities including anhidrosis. In this study, we measured the skin sympathetic nerve activity (SSNA), skin potential and sweat rate in a symptomatic female carrier to investigate the underlying pathophysiology of anhidrosis. The basal activity and responsiveness of SSNA were both fairly well preserved, although slightly reduced compared with the control levels. However, sweating was completely absent, despite the normal skin potential change in response to SSNA bursts. These results suggest that anhidrosis in Fabry's disease is a result of sweat gland dysfunction as well as abnormal SSNA.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02291231
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  • 14
    Electronic Resource
    Electronic Resource
    Impairment of calcitonin gene-related peptide-induced potentiation of cholinergic sweat secretion in patients with multiple system atrophy (1997)
    Springer
    Clinical autonomic research 7 (1997), S. 77-80 
    Details
    ISSN: 1619-1560
    Keywords: multiple system atrophy ; sweat gland ; peptidergic regulation ; calcitonin gene-related peptide
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Loss of sweating is a characteristic feature of multiple system atrophy (MSA) with autonomic failure, and widespread anhidrosis may lead to hyperthermia and collapse in a hot environment. Calcitonin gene-related peptide (CGRP) is present in the periglandular nerves around sweat glands and is a strong stimulant of methacholine (MCH)-mediated cholinergic sweating. The present study evaluated CGRP-related regulation of cholinergic sweating in patients with MSA. CGRP-induced potentiation of MCH-mediated cholinergic sweating was significantly reduced in MSA patients as compared with normal age-matched controls. These results suggest that regulation of sweating is extensively affected in MSA as a consequence of peptidergic dysfunction.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02267750
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    Paper (German National Licenses)
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  • 15
    Electronic Resource
    Electronic Resource
    Relationship between respiratory failure and plasma noradrenaline levels in amyotrophic lateral sclerosis (1997)
    Springer
    Clinical autonomic research 7 (1997), S. 173-177 
    Details
    ISSN: 1619-1560
    Keywords: amyotrophic lateral sclerosis ; plasma noradrenaline ; head-up tilt test ; sympathetic hyperactivity ; respiratory failure ; chemoreceptor
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We evaluated plasma noradrenaline (NA) levels at rest and during head-up tilt test in 20 patients with sporadic amyotrophic lateral sclerosis (ALS). Their fasting plasma NA levels ranged from 195 to 4227 pg/ml. The average plasma NA level was 483 pg/ml in five ambulatory patients, 341 in two wheelchair-bound patients, 1264 in 11 bedridden patients, and 208 in two respirator-dependent patients whose disability grading was the worst among the four groups. Arterial carbon dioxide (PCO2) was evaluated as a measure of respiratory function. The coefficient of correlation between PCO2 and plasma NA wasr=0.654 (p〈0.01). Either respiratory failure or lower motor neuron dysfunction may relate to the elevation of plasma NA levels. In the two bedridden patients, plasma NA levels and heart rate at rest increased significantly as the disease progressed. Cardiovascular responses to head-up tilting were normal. These data suggest that the elevation of plasma NA levels may be related to progression of respiratory failure and lower motor neuron dysfunction. In conclusion, sympathetic hyperactivity in ALS is considered to be not primary, but secondary to somatic motor disabilities and respiratory failure.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02267978
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    Paper (German National Licenses)
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