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  • 1
    Electronic Resource
    Electronic Resource
    Cerebrospinal Fluid and Plasma Concentrations of POMC-Related Peptides in Multiple Sclerosis (1992)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 650 (1992), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1992.tb49151.x
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  • 2
    Electronic Resource
    Electronic Resource
    Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14 (1992)
    [s.l.] : Nature Publishing Group
    Nature genetics 2 (1992), S. 330-334 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Familial Alzheimer's disease (FAD) has been shown to be genetically heterogeneous, with a very small proportion of early onset pedigrees being associated with mutations in the amyloid precursor protein (APP) gene on chromosome 21, and some late onset pedigrees showing associations with markers on ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng1292-330
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  • 3
    Electronic Resource
    Electronic Resource
    Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease (1995)
    [s.l.] : Nature Publishing Group
    Nature 375 (1995), S. 754-760 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3) associated with susceptibility to a very aggressive form of Alzheimer's disease to chromosome 14q24.3. We have defined a minimal cosegregating ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/375754a0
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  • 4
    Electronic Resource
    Electronic Resource
    Myotonia congenita and myotonic dystrophy: Descriptive epidemiological investigation in Turin, Italy (1955–1979) (1982)
    Springer
    Neurological sciences 3 (1982), S. 207-210 
    Details
    ISSN: 1590-3478
    Keywords: Myotonia congenita ; myotonic dystrophy ; epidemiology ; Turin (north Italy)
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario È stata condotta un'indagine epidemiologica descrittiva circa la distribuzione della Miotonia Congenita e della Distrofia Miotonica nella popolazione residente nella Città di Torino, Italia (1.160.86 residenti il 31 Dicembre 1979). I casi sono stati dapprima individuati usufruendo degli Archivi della Clinica Neurologica dell' Università di Torino e delle Divisioni Neurologiche Ospedaliere della città. Ogni paziente ed i parenti dei soggetti affetti da Distrofia Miotonica sono stati quindi sottoposti ad un nuovo esame clinico ed elettromiografico allo scopo di confermare la diagnosi iniziale e di ac. delle malattie. Il tasso di prevalenza risultato 0.9 (±0.6)×10 −5per la Miotonia Congenita, e 2.1 (±0.8)×10−5 per la Distrofia Miotonica. Nel periodo 1955–1979, il tasso di incidenza media annuale era pari a 0.3 (±0.2)× 10−6 per la Miotonia Congenita, ed a 0.7 (±0.3)×10−6per la Distrofia Miotonica. Il tasso di incidenza alla nascita era di 1.4 (±1.2)×10−5 per la prima e di 2.9 (±1.8)×10−5 per la seconda delle miopatie studiate. Sono state pure indagate le modalità di trasmissione genetica e la distribuzione rispetto al sesso delle due malattie. La conoscenza dei caratteri epidemiologici di queste miopatie è di primaria importanza in vista di un approccio eugenetico.
    Notes: Abstract A descriptive epidemiological survey of Myotonia Congenita (MC) and Myotonic Dystrophy (MD) was carried out on the resident population of the City of Turin, Italy. Cases were collected from the Archives of the Neurological Clinic, University of Turin, and from other neurological departments in the city's hospitals. Every patient (and the “healthy” relatives of MD subjects) underwent clinical and EMG re-examination, in order to confirm the initial diagnosis and to investigate the familial distribution of the diseases. The point prevalence rate was 0.9 (±0.6)×10 −5 for MC and 2.1 (±0.8)×10−5 for MD. During the period 1955–1979 the mean annual incidence was 0.3 (±0.2)×10−6 for MC and 0.7 (±0.3)×10−6 for MD. The incidence-at-birth rate was 1.4 (±1.2)×10−5 for MC and 2.9 (±1.8)×10−5 for MD. The modalities of inheritance and sex distribution of MC and MD were also studied. Knowledge of epidemiological features of these myopathies is of vital importance for genetic counselling.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02043311
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  • 5
    Electronic Resource
    Electronic Resource
    The power of systematic genealogical study in familial Alzheimer disease (1993)
    Springer
    Neurological sciences 14 (1993), S. 239-244 
    Details
    ISSN: 1590-3478
    Keywords: Familial Alzheimer disease ; genealogical method ; founder effect
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Diversi ceppi (famiglie N, C, To, RB) con Malattia di Alzheimer Familiare (FAD), provenienti dalla stessa ristretta area della Calabria, sono attualmente in corso di studio. Recentemente, due degli autori (F.M. e L.F-S.), hanno identificato a Milano una famiglia (FJ01) composta da tre fratelli affetti i cui genitori avevano origini calabresi. La successiva applicazione di un metodo di studio genealogico “a tappeto” ha permesso il ritrovamento di un legame tra la famiglia To e la FJ01. Si discute l'importanza di questi risultati per gli studi genetici.
    Notes: Abstract Several kindreds (N,C, To and RB) with familial Alzheimer disease (FAD) from the same small area of Calabria are currently under study. Recently two of us (F.M. and L.F-S.) identified a family in Milan (FJ01) made up of 3 siblings whose parents were of Calabrian origin. Through a subsequent systematic or blanket genealogical study a link has been traced between kindreds To and FJ01. We discuss the relevance of these results to genetic studies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02335665
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  • 6
    Electronic Resource
    Electronic Resource
    α-MSH and Parkinson disease (1988)
    Springer
    Neurological sciences 9 (1988), S. 93-96 
    Details
    ISSN: 1590-3478
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02334416
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  • 7
    Electronic Resource
    Electronic Resource
    Primary dementias: Epidemiological and sociomedical aspects (1984)
    Springer
    Neurological sciences 5 (1984), S. 51-55 
    Details
    ISSN: 1590-3478
    Keywords: Epidemiology ; primary dementias ; prevalence ; nursing homes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario È stata condotta una indagine epidemiologica sulle sindromi demenziali primitive nella città di Bra (26 287 residenti), nella regione Piemonte. Tutti i pazienti per i quali era già stata effettuata una diagnosi di demenza senile ed i casi emersi tramite una lettera questionario sono stati sottoposti ad una ampia batteria di tests neuropsicologici. Il tasso di prevalenza è risultato di 255 (±61)per 100 000 nell'intera popolazione e di 2028 (±476) per 100 000 nella popolazione al di sopra dei 65 anni. Particolare attenzione è stata dedicata ai dementi ricoverati presso istituzioni di nursing. Fattori favorenti il ricovero sono risultati: l'età avanzata, una grave compromissione della motricità e l'appartenenza al sesso femminile. Non è stata riscontrata una correlazione positiva tra la gravità della sindrome demenziale e l'avvenuto ricovero.
    Notes: Abstract An epidemiological survey of primary dementia syndromes was conducted in the city of Bra (26287 residents) in the Piedmont region. All the patients for whom a diagnosis of senile dementia had already been recorded together with the cases coming to light as a result of a questionary circulated to general practitioners and neuropsychiatrists were subjected to a broad battery of neuropsychological tests. The prevalence rate proved to be 255 (±61) per 100 000 of the population and 2028 (±476) per 100 000 of the over 65s. Close attention was paid to dements living in nursing facilities. Factors favoring institutionalisation were: advanced age, severe motor impairment and female sex. No correlation between severity or dementia and institutionalisation was found.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02043970
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  • 8
    Electronic Resource
    Electronic Resource
    Brainstem auditory evoked potentials in postconcussion syndrome (1982)
    Springer
    Neurological sciences 3 (1982), S. 281-287 
    Details
    ISSN: 1590-3478
    Keywords: brainstem auditory evoked potentials ; minor head injury ; postconcussion syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario I potenziali evocati acustici del tronco cerebrale (BAEP) sono stati registrati in 55 pazienti affetti da sindrome soggettiva postcraniotraumatica (PCS), per evidenziare un possibile danno organico subclinico del tronco cerebrale. Quindici pazienti (27.3%) hanno mostrato risposte alterate unilateralmente o bilateralmente, soprattutto a causa della presenza di una o più latenze interpicchi oltre i limiti fiduciali superiori del 99%. Altri 9 pazienti hanno mostrato risposte borderline. Non sono state ritrovate correlazioni tra il reperto di BAEP alterati e la presenza di vertigini all'atto dell'esame, né con il comportamento dell'esame vestibolare. Benché le alterazioni del BAEP si possano osservare anche a distanza di molti mesi dal trauma, la maggioranza dei pazienti con BA EP alterati, ad un secondo esame ha mostrato un miglioramento della risposta. Tali dati dimostrano che i BAEP sono in grado, in alcuni pazienti affetti da PCS, di evidenziare un danno organico del tronco cerebrale, passibile di regressione.
    Notes: Abstract Brainstem auditory evoked potentials (BAEPs) were recorded from 55 patients with postconcussion syndrome (PCS) to elicit evidence of an organic and subclinical brainstem disorder. Fifteen patients (27.3%) showed abnormal responses unilaterally or bilaterally, especially for one or more interpeak latencies prolonged beyond the upper 99% confidence limits. Other 9 patients had borderline responses. The BAEP alterations were not correlated either with dizziness at the time of recording, or with vestibular troubles in the routine caloric test. Though BAEP abnormalities may be present a long time after injury, we found an improvement of responses in the majority of 14 re-tested patients. These data show that BAEP can give an objective demonstration of a reversible brainstem disorder in patients with PCS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02043575
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