Library

feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    ISSN: 1432-1459
    Keywords: Key words SCA2 ; Autosomal ; dominant cerebellar ataxia ; CAG ; expansion ; Intergenerational ; instability ; Anticipation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Autosomal dominant cerebellar ataxia type I is the most common form of dominant ataxia. A genetic heterogeneity has been identified with five different loci (SCA1, 2, 3, 4, and 6). A pathological expansion of a CAG sequence has been identified in SCA1, 2, 3, and 6. We performed molecular analysis in 51 families with autosomal dominant cerebellar ataxia type I, mainly originating from southern Italy and Sicily. Thirty families carry an expanded CAG sequence within SCA2 gene. The mean number of repeats was 39.9 ± 3.3 in 85 expanded alleles, with a range of 34–52. The number of triplets was inversely correlated with age at onset and explained 76% of the variance. The best fit was obtained with an exponential relationship between variables. Expanded alleles were unstable when transmitted from parents to offspring. Expansions were more common than contractions, accounting for 59% of the total meioses and for 80% of the father-child transmissions. The mean intergenerational variation was 1.9 repeats (range –3 to +15) with higher values for male transmissions. Bulbar and autonomic signs were related to disease duration, pyramidal signs to CAG size, cerebellar features and peripheral neuropathy to both. Among the remaining 21 families, three carried the SCA1 and one the SCA6 mutation. This study suggests that SCA2 is the prevalent mutation in southern Italy.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 2
    ISSN: 1432-1459
    Keywords: Key words Spinocerebellar ; degeneration ; Cerebral blood flow ; Single photon emission tomography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We used single photon emission tomography to study regional cerebral perfusion in patients with different forms of spinocerebellar degeneration: 6 patients with Friedreich’s ataxia (FA), 6 with early-onset cerebellar ataxia with retained tendon reflexes (EOCA), 5 with autosomal dominant cerebellar ataxia type 1 (ADCA I) and 11 with idiopathic late-onset cerebellar ataxia (ILOCA). The results were related to clinical and magnetic resonance imaging (MRI) findings. Cerebellar hypoperfusion was constant in ADCA I and frequent in patients with other spinocerebellar degenerations. Brain stem hypoperfusion was constant in ADCA I, frequent in ILOCA patients with pontocerebellar atrophy and absent in FA and EOCA. FA and EOCA often showed a reduction in the parietotemporal cortex blood flow, which was not related to cortical atrophy. ILOCA patients had an asymmetric pattern in the temporal areas with decreased blood flow in the right side only. Caudate hypoperfusion was found in ADCA I patients. Cerebral atrophy did not account for changes in regional blood flow, which probably indicate early involvement of cerebral structures.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 3
    ISSN: 0885-4505
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 4
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Journal of Neurolinguistics 7 (1992), S. 115-131 
    ISSN: 0911-6044
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Linguistics and Literary Studies , Biology , Medicine
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 5
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Journal of neurochemistry 46 (1986), S. 0 
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract: Glutamate dehydrogenase (GDH) activity was studied in 17 regions of six human brains. Duration and conditions of the postmortem period did not affect enzyme activity. Specific activity ranged between 103 and 377 nmoles/min/mg protein at 25°C and it was 10-fold higher than that found in leukocytes. Apart from exclusively white matter regions (corpus callosum and centrum ovale), there was a moderate regional distribution (2.5-fold variation), with highest values in the inferior olive and hypothalamus, and lowest in the cerebellum and lenticular nucleus. With α-ketoglutarate (α-KG), NADH, or NH4+ as variable substrate, the apparent Km values in human brain were Kmα-KG= 1.9 × 10−3 M, KmNADH= 0.21 × 10−3 M, and KmNH4+= 28 × 10−3 M, and in leukocytes they were Kmα-KG= 1.7 × 10−3 M, KmNADH= 0.24 × 10−3 M, and KmNH4+= 28 × 10−3 M. The effects of cofactors, inhibitor, and pH were similar in brain and leukocyte GDH.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 6
    ISSN: 1590-3478
    Keywords: evoked potentials ; motor cortex stimulation ; inherited ataxias
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Abbiamo sottoposto 34 pazienti affetti da varie forme di eredoatassia [15 con atassia di Friedreich (FD), 10 con atassia cerebellare ad esordio precoce con conservazione dei riflessi (EOCA) e 9 con atassia cerebellare dominante (ADCA)] a stimolazione della corteccia motoria (CS), potenziali evocati somatosensoriali (SSEPs) ed acustici (BAEPs). La via motoria centrale è risultata maggiormente compromessa nei pazienti con FD rispetto a quelli con EOCA mentre nei pazienti con ADCA non è risultata mai coinvolta; le alterazioni osservate sono risultate correlate con la durata e con la gravità della malattia solo nei pazienti con FD. I SSEPs, risultati gravemente compromessi in tutti i pazienti con FD, non presentavano alcuna correlazione con la gravità della malattia. L'incidenza e la gravità delle alterazioni dei SSEPs nei pazienti con EOCA e ADCA è risultata inferiore rispetto a quelli con FD. I BAEPs sono risultati frequentemente alterati nei 3 gruppi di pazienti con una maggiore percentuale negli EOCA.
    Notes: Abstract A multimodal electrophysiological study, including median nerve somatosensory evoked potentials (SSEPs), motor cortical stimulation (CS) and brainstem evoked potentials (BAEPs), was performed on 34 patients with hereditary ataxias (HAs): 15 with Friedreich's disease (FD), 10 with early onset cerebellar ataxia (EOCA), and 9 with autosomal dominant cerebellar ataxia (ADCA). A higher incidence of abnormal central motor conduction was observed in FD than in EOCA patients, but was never observed in ADCA. A relationship between central motor conduction abnormalities and disease duration and clinical impairment was found only in FD patients. All FD patients showed severe impairment of the SSEPs that was not related to disease duration. In EOCA patients, less frequent and more variable SSEP abnormalities were observed. The lowest incidence of central SSEP abnormalities was observed in ADCA. The BAEP findings in all 3 groups of patients (but particularly those with EOCA) suggest prevalent brainstem damage.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 7
    ISSN: 1590-3478
    Keywords: magnetic resonance imaging ; Friedreich's disease ; early onset cerebellar ataxia with retained tendon reflexes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario La Risonanza Magnetica permette lo studio morfologico “in vivo” dell'encefalo e del midollo spinale nei pazienti con atassia ereditaria. Noi abbiamo eseguito uno studio con immagini T1- e T2-pesate in 11 pazienti con Malattia di Freidreich (MF), 5 con MF ad esordio tardivo e 10 con atassia cerebellare ad esordio precoce con conservazione dei riflessi osteotendinei (Early Onset Cerebellar Ataxia with retained tendon reflexes, EOCA). L'atrofia del midollo cervicale era costante in MF ed MF ad esordio tardivo, spesso in associazione con atrofia cerebellare e del tronco. Le immagini T2-pesate mostravano degenerazione dei cordoni posteriori nel midollo cervicale. In EOCA il reperto più frequente era l'atrofia cerebellare, pura od in associazione con atrofia del midollo cervicale o del tronco. L'atrofia cerebellare in EOCA era marcata in pochi casi ed era correlata con la durata di malattia.
    Notes: Abstract MRI makes it possible to study the in vivo brain and spinal cord morphology of patients with hereditary ataxia. We performed T1-and T2-weighted studies in eleven patients with Friedreich's disease (FD), five with “late onset” FD and ten with early onset cerebellar ataxia with retained tendon reflexes (EOCA). Cervical cord atrophy was constant in FD and “late onset” FD and often associated with atrophy of the cerebellum and of the brainstem; T2-weighted studies showed posterior column degeneration in the cervical cord. The most frequent finding in EOCA was cerebellar atrophy, pure or associated with cervical cord or brainstem atrophy; the cerebellar atrophy was marked in a few cases and was related to disease duration.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 8
    ISSN: 1432-1459
    Keywords: Spinocerebellar degeneration ; Friedreich's disease ; Diagnostic criteria ; Genetics ; Natural history
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The clinical and genetic features of 80 patients with Friedreich's disease from 64 families are described. Diagnostic criteria were: no evidence of dominant inheritance, onset by the age of 20 years, progressive unremitting ataxia of limbs and gait, and absence of knee and ankle jerks. Furthermore, at least one of the following accessory signs was present: dysarthria, extensor plantar response and echocardiographic evidence of hypertrophic cardiomyopathy. Two peaks of onset age were evident at 6–9 and 12–15 years. Analysis of intrafamily variation of onset age and absence of clustering of cardiomyopathy and diabetes did not suggest genetic heterogeneity. Peripheral nerve impairment was an early finding and showed slight further progression, whereas involvement of the cerebellar and corticospinal pathways appeared later and mainly accounted for the progressive worsening of the disease.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 9
    ISSN: 1432-1459
    Keywords: Key words Friedreich’s ataxia ; Retained tendon reflexes ; GAA ; expansion ; Sensory action potentials ; Somatosensory evoked potentials
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Among 101 patients homozygous for GAA expansion within the X25 gene, 11 from 8 families had Friedreich’s ataxia with retained reflexes in the lower limbs (FARR). These patients had a lower occurrence of decreased vibration sense, pes cavus, and echocardiographic signs of left ventricular hypertrophy than the 90 FA patients with areflexia. The mean age at onset was significantly later (26.6 ± 11.4 vs. 14.2 ± 6.9 years), and the mean size of the smaller allele was significantly less (408 ± 252 vs. 719 ± 184 GAA triplets) in FARR patients. The neurophysiological findings were consistent with milder peripheral neuropathy and milder impairment of the somatosensory pathways in FARR patients.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...