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  • 1
    Electronic Resource
    Electronic Resource
    Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations (1996)
    Springer
    Human genetics 〈Berlin〉 98 (1996), S. 203-206 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Neurofibromatosis 2 (NF2) is a clinically variable autosomal dominant disorder, caused by mutations in the NF2 tumor suppressor gene on chromosome 22q12, that predisposes to nervous system tumors and ocular abnormalities. To assess intrafamilial phenotypic variability, we performed mutation analysis and clinical assessment on two multigeneration NF2 families with five patients and seven asymptomatic first-degree relatives of patients. One family had a point mutation of agCC→ggCC at position 1447–2 at the exon 13/14 boundary predicted to lead to an altered splice acceptor sequence and exon deletion. The other family had an insertion of 2 base pairs (TC) at position 761 in exon 8, leading to a frameshift. Both mild and severe phenotypes occurred in each family, indicating that phenotypic variability in NF2 can be caused by factors other than NF2 mutations. Genetic counseling of NF2 families should include the possibility that presymptomatic NF2 mutation carriers can develop a different phenotype than previously diagnosed patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050191
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  • 2
    Electronic Resource
    Electronic Resource
    Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes (1996)
    Springer
    Human genetics 〈Berlin〉 98 (1996), S. 534-538 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Neurofibromatosis 2 (NF2) is an autosomal inherited disorder that predisposes carriers to nervous system tumors. To examine genotype-phenotype correlations in NF2, we performed mutation analyses and gadolinium-enhanced magnetic resonance imaging of the head and full spine in 59 unrelated NF2 patients. In patients with vestibular schwannomas (VSs) or identified NF2 mutations, the mild phenotype was defined as 〈2 other intracranial tumors and ≤ 4 spinal tumors, and the severe phenotype as either ≥ 2 other intracranial tumors or 〉 4 spinal tumors. Nineteen mutations were found in 20 (34%) of the patients and were distributed in 12 of the 17 exons of the NF2 gene, including intron-exon boundaries. Seven mutations were frameshift, six were nonsense, four were splice site, two were missense, and one was a 3-bp in frame deletion. The nonsense mutations included one codon 57 and two codon 262 C→T transitions in CpG dinucleotides. The frameshift and nonsense NF2 mutations occurred primarily in patients with severe phenotypes. The two missense mutations occurred in patients with mild phenotypes, and three of the four splice site mutations occurred in families with both mild and severe phenotypes. Truncating NF2 mutations are usually associated with severe phenotypes, but the association of some mutations with mild and severe phenotypes indicates that NF2 expression is influenced by stochastic, epigenetic, or environmental factors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050255
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  • 3
    Electronic Resource
    Electronic Resource
    A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2 (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 224-227 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Since the identification of the NF2 tumor suppressor gene in 1993, various mutations have been found in NF2-related tumors and in lymphocytes from NF2 patients. Most of the reported mutations result in truncated gene products. Missense mutations affecting the tumor suppressor are rare. These missense mutations would provide valuable information for the understanding of the function of the tumor suppressor, since they should affect critical parts of the protein. In this study we describe a novel point mutation in exon 15 of the NF2 gene, which is found in lymphocyte DNA of two NF2 patients from one family. This mutation is expected to result in a substitution of Pro for Gln at codon 538. Though both of the two patients developed bilateral vestibular schwannomas, the first patient showed onset of the disease at the age of 31 years and presented with various central, peripheral and abdominal tumors, while the second patient showed later onset of clinical symptoms (at age 52 years) and presented with only two additional small spinal tumors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02265270
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  • 4
    Electronic Resource
    Electronic Resource
    Das hyperkinetische Syndrom (Aufmerksamkeitsdefizit-/ Hyperaktivitätsstörung) des Erwachsenenalters Anmerkung zur Arbeit von K.-H. Krause et al. (1999)
    Springer
    Der Nervenarzt 70 (1999), S. 83-83 
    Details
    ISSN: 1433-0407
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001150050406
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  • 5
    Electronic Resource
    Electronic Resource
    Der Eppendorfer Juckreizfragebogen (1997)
    Springer
    Der Hautarzt 48 (1997), S. 730-733 
    Details
    ISSN: 1432-1173
    Keywords: Schlüsselwörter Juckreiz ; Multidimensionaler Fragebogen ; Key words Itch ; Questionnaire
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary In dermatological practice, itch is the leading symptom of many skin diseases with a variety of psychophysiological aspects. However, a complete inventory for the qualitative evaluation of these central nervous factors is missing, whereas in pain research, the McGill Pain Questionnaire is well established for this purpose. Thus, therapeutic effects of antipruritic agents are only incompletely described by visual analog scales or parameters of skin physiology. Here, a questionnaire modified in analogy to the McGill pain questionnaire is presented, developed in cooperation between dermatologists and neurophysiologists.
    Notes: Zusammenfassung Juckreiz stellt in der dermatologischen Praxis ein führendes Symptom mit vielen psychophysiologischen Facetten dar. Dennoch fehlt – im Vergleich zur Schmerzforschung, in der der McGill Pain Questionnaire inzwischen eine wichtige Routinefunktion hat – ein vollständiges Inventar zur qualitativen Erfassung dieser zentralnervösen Aspekte. So sind z.B. therapeutische Wirkungen nur unvollständig an Visual-analog-Skalen oder hautphysiologischen Parametern validierbar. In Ergänzung zu diesen Verfahren wird hier ein multidimensionaler Fragebogen als modifiziertes Analogon zum McGill Questionnaire vorgestellt, der in Zusammenarbeit von Hautklinik und Neurophysiologie entwickelt wurde.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001050050651
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  • 6
    Electronic Resource
    Electronic Resource
    Supporting evidence of a gene for partial epilepsy on 10q (2000)
    Springer
    Neurogenetics 3 (2000), S. 31-34 
    Details
    ISSN: 1364-6753
    Keywords: Key words Partial seizure ; Epilepsy ; 10q
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ABSTRACT A four-generation family with nine individuals with temporal partial epilepsy was studied. Detailed epilepsy history was investigated by structured interview. All putatively affected family members underwent a standardized electroencephalographic examination. The phenotype in the family was characterized by a short acoustic aura followed by rapid secondary generalization. To examine if the trait is linked to a region on 10q (interval D10S185–D10S1671), which has been reported in two other epilepsy families with similar phenotypes, linkage analysis was performed using nine markers covering the previously reported region. A maximum two-point LOD score of 2.1 at a recombination fraction of zero was obtained. All living affected individuals shared the same haplotype, while three unaffected at-risk adults did not. This result presents supporting evidence of a gene for partial epilepsy on 10q.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100480000091
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  • 7
    Electronic Resource
    Electronic Resource
    Spinal tumours in neurofibromatosis type 1: an MRI study of frequency, multiplicity and variety (1999)
    Springer
    Neuroradiology 41 (1999), S. 625-629 
    Details
    ISSN: 1432-1920
    Keywords: Key words Neurofibromatosis ; Magnetic resonance imaging ; Spinal tumours
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In neurofibromatosis type 1 (NF1) spinal tumours cause neurological symptoms in about 2 % of patients. Among over 1400 patients with NF1 we saw symptomatic spinal tumours in 23 (1.6 %). MRI of the entire spinal canal was obtained in 54 patients aged 5–56 years with NF1. The number, site, morphology and signal characteristics of the spinal tumours were recorded and analysed. There were 24 patients with symptoms such as sensory impairment or paralysis; 30 patients had no neurological deficits. Of the 24 symptomatic patients, 23 (96 %) had spinal tumours, while we saw spinal tumours in 12 (40 %) of the 30 patients without neurological deficits. No spinal segment was preferred in symptomatic or asymptomatic patients. Most intraspinal extramedullary tumours were primarily extradural and intraforaminal. MRI showed intramedullary tumours in 3 patients (6 %), intraspinal extramedullary tumours in 18 (33 %) and intraforaminal tumours in 31 (57 %). Only neurological deficits in patients with NF1 should prompt further diagnostic clarification. In patients with neurological symptoms there may be a multiplicity of masses in the spinal canal, which can lead to difficulties in attaching symptoms to a certain tumour. In patients who do not satisfy the NIH criteria, it can be a helpful observation that spinal tumours in NF1 are primarily intraforaminal, extending into the spinal canal, while in NF2 they are mostly intraspinal intradural tumours.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002340050814
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  • 8
    Electronic Resource
    Electronic Resource
    Tumorreduktion plexiformer Neurofibrome im kraniofazialen und Halsbereich (1998)
    Springer
    Mund-, Kiefer- und Gesichtschirurgie 2 (1998), S. S86 
    Details
    ISSN: 1434-3940
    Keywords: Schlüsselwörter Neurofibromatose Typ 1 ; Orbitale Neurofibrome ; Tumorreduktion ; Key words Neurofibromatosis ; Orbital neurofibromas ; Tumour reduction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease of high penetrance and variable expression. Epidemiologic data on craniofacial manifestations are still lacking. Up until now 74 patients with NF1 have been treated at the Department of Oral and Maxillofacial Surgery of the University of Hamburg. Forty-two patients presented periorbital and orbital neurofibromas varying in extension and in the severity of findings of the affected site. Surgical therapy is mainly based on tumour reduction, frequently combined with face-lifting. In our experience neurofibromas of the neck tend to be pseudo-encapsulated, facilitating the preparation of the tumour. On the other hand, identification and preparation of diffuse infiltrating neurofibromas in the trigeminal nerve region are difficult and local recurrence must be expected.
    Notes: Zusammenfassung Die Neurofibromatose Typ 1 (NF1) ist eine autosomal-dominante Erkrankung hoher Penetranz mit sehr variabler Expressivität. Epidemiologische Daten über den Anteil kraniofazialer Manifestationen fehlen bisher. An der Klinik für Mund-Kiefer-Gesichtschirurgie der Universität Hamburg wurden bisher 74 Patienten mit NF1 behandelt. Hiervon waren 42 Patienten mit periorbitalen oder orbitalen Neurofibromen variabler Ausbreitung und unterschiedlichen Schweregrads betroffen. Die operative Therapie basiert im wesentlichen auf einer Tumorreduktion, die im Gesichtsbereich häufig mit einem Face-Lift kombiniert wird. Im Halsbereich sind nach eigenen Erfahrungen die Neurofibrome häufiger von einer Pseudokapsel eingescheidet und daher leichter zu präparieren als die diffusen, mehrheitlich rezidivierenden plexiformen Neurofibrome im Versorgungsgebiet des N. trigeminus.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014490
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  • 9
    Electronic Resource
    Electronic Resource
    Detection of retinal changes in neurofibromatosis 2 (1998)
    Springer
    Der Ophthalmologe 95 (1998), S. 687-690 
    Details
    ISSN: 1433-0423
    Keywords: Key words Neurofibromatosis 2 • Fluorescence angiography • Window defects of pigment • Choked papilla • Astrocytic hamartoma ; Schlüsselwörter Neurofibromatose Typ 2 • Fluoreszenzangiographie • Fensterdefekte des Pigmentepithels • Stauungspapille • Astrozytäres Hamartom
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Fragestellung: Die Neurofibromatose Typ 2 (NF2) ist eine seltene autosomal dominante Erkrankung (1:37.000), die als Tumorsuppressorgenerkrankung zum Auftreten von verschiedenen Tumoren des zentralen und peripheren Nervensystems führt. Intraokulare Manifestationen der Neurofibromatose Typ 2 sind bisher als subkapsuläre Katarakt, retinale Hamartome, epiretinale Membranen, Keratopathien bei Fazialisparese, sowie Tumoren der Nerven I–V beschrieben worden, aber nur ungenügend untersucht. Patienten und Methoden: Wir untersuchten prospektiv 7 Patienten, die die diagnostischen Kriterien für NF2 erfüllten, hinsichtlich retinaler Veränderungen mittels Fluoreszenzangiographie und rotfreier Fundusfotografie. Ergebnisse: Bei 4 Patienten beobachteten wir Fensterdefekte des Pigmentepithels im Bereich der Makula oder paramakulär. Ein kombiniertes Pigmentepithel- und astrozytäres Hamartom wurde bei einem Patienten gefunden. Zwei weitere Patienten wiesen eine Beteiligung des Sehnervenkopfes in Form einer Stauungspapille auf. Schlußfolgerungen: Retinale Veränderungen treten möglicherweise viel häufiger bei NF2 auf als bisher angenommen. Unsere Untersuchungen bestätigen, daß Veränderungen des Sehnervenkopfes, der Netzhaut und der Aderhaut bei NF2 vermehrt Beachtung geschenkt werden muß.
    Notes: Background: Neurofibromatosis 2 (NF2) is a rare autosomal dominant disorder (prevalence 1:37.000) associated with changes in tumor suppressor genes. Intraocular manifestations have been reported as subcapsular cataract, retinal hamartomas, epiretinal membranes, keratopathy in facial palsy, and tumors of the nerves I–V are typical ocular manifestations of NF2. Patients and materials: We prospectively examined 7 patients who met the diagnostic criteria of NF2 with regard to retinal changes using fluorescence angiography and red-free fundus photography. Results: In four patients, we found window defects of the pigment epithelium in the macular or paramacular areas. In one patient we observed a combined pigment epithelial and astrocytic hamartoma. A choked papilla was found in two patients. Conclusions: Presumably, retinal changes in NF2 occur more frequently than has been assumed previously. Our results confirm that in NF2 patients more attention should be paid to abnormalities of the optic disk, the retina and the choroid.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003470050336
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