摘要:

Introduction– An increase of Parkinson's disease (PD) mortality has been observed in various countries during the last 3 decades. An analysis was done in order to define whether this trend could be due to a cohort effect.Material&methods– The mortality from PD in Italy during the period 1963–1987 was analyzed by means of a simplified cohort method. A mortality rate ratio (MRR) was also calculated, reporting all rates to 1906–1910 birth‐cohort.Results– The mean annual mortality rates from PD sharply increased during the period of the study. The MRRs increased from the cohort born between 1881 and 1885, to a maximum in the cohort born between 1906 and 1910, and then markedly decreased in the following cohorts.Conclusion– According to our findings, the increase of PD mortality could be partly ascribed to an higher risk of dying from PD experienced by the cohorts of people born in the first decade of

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb01022.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Objective‐ To investigate endogenous cerebrospinal fluid catecholamines in Parkinson's disease.Material and methods‐ Basal concentrations offreenorepinephrine (NE), dopamine (DA), epinephrine (E), 3,4‐dihydroxyphenylacetic acid (DOPAC) and 3,4‐dihydroxyphenylalanine (DOPA) in cerebrospinal fluid (csf) and plasma were measured using reverse‐phase HPLC with electrochemical detection in 16 patients with Parkinson's disease and 21 control patients with low back pain.Results‐Parkinsonian patients had significantly decreased values of csf NE and DOPAC, the strong relationship between plasma and csf NE was disrupted and neither was there any age related increase of plasma NE. In 1‐DOPA treated patients plasma DA and DOPA concentrations were raised and csf DOPAC values were inversely related to severity of disease (Hoehn and Yahr score). Csf E concentrations were also reduced in parkinsonian patients whereas csf DA concentrations were unchanged. Csf DOPA concentrations were insignificantly decreased in parkinsonian patients.Conclusions‐These results point towards a diffuse neuronal dysfunction in Parkinson's disease and indicate that lumbar csf NE and csf DOPAC are of central

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb01023.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Introduction– Distal myopathies are currently regarded as a non‐homogeneous group of disorders including different autosomal dominant, recessive and sporadic forms.Material and methods‐ The cases of a mother and her son and daughter are described and compared to previously reported cases from 4 families. Despite minor differences, the clinical picture is remarkably homogeneous, both within the same family and among different families.Conclusion‐ A distinct clinical form can be identified including: a) autosomal dominant inheritance; b) onset in infancy or childhood with peroneal muscles weakness; c) not disabling evolution in spite of possible late involvement of muscles others than tibio‐peroneal; d) usually normal serum CK and other muscle enzymes; e) EMG evidence of primary myogenic damage; f) morphological findings of non‐specific myopathy. Because of the benign evolution and the absence of true dystrophic changes in most biopsies we suggest the term infantile autosomal dominant distal myopathy should be preferred to infantile autosomal dominant distal muscula

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb01024.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Histopathologic studies and magnetic resonance images of the leg muscles were conducted in two patients with glycyrrhizin‐induced hypokalemic myopathy (GHM). Muscle biopsy showed myopathic changes and vacuolated fibers with light microscopy, and dilatation of the sarcoplasmic reticulum, various types of vacuoles and myofibrillar degeneration with electron microscopy. High signal intensities in T2–weighted images obtained during severe muscle weakness were widely distributed in the leg muscles, especially the pretibial and soleus muscles. These high signal intensities disappeared after full recovery of muscle weakness. We suggest that high signal intensity in T2–weighted images can be seen and correspond to histopathologic changes in the muscles of GHM pat

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb01025.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

The genetic mutation underlying Huntington's disease (HD) has been identified as an expansion and instability of a specific CAG repeat sequence in a gene on chromosome 4. A simple polymerase chain reaction assay has been used for the assessment of the (CAG)n expansion in a 72‐year‐old woman with typical HD symptoms, but no family history of the disorder. The DNA analysis showed that the patient had an allele with 41 repeat units, in the size range seen in HD chromosomes. Therefore, HD diagnosis is confirmed in this seemingly sporadic case and the disease is newly diagnosed in a large family. The risk of inheriting this unstable expanded allele is discussed.Introduction– The discovery of an expansion of a trinucleotide (CAG) repeat region in the IT 15 gene on the short arm of chromosome 4 has identified the mutational mechanism causing Huntington's disease (HD) and enables the direct diagnosis of affected subjects based on DNA analysis alone. Here a 72‐year‐old woman with typical HD symptoms, but no family history of the disorder, has been unambiguously diagnosed by using a quick DNA analysis. This is relevant because the disease is newly diagnosed in a large family.Material and methods– A labelled polymerase chain reaction (PCR) test has been used to amplify the repeat region of the IT 15 gene and DNA fragments were analyzed by Polyacrylamide gel electrophoresis.Results– The number the CAG repeats in the proband displayed two alleles of 23 and 41 repeats, respectively. Since normal chromosomes are reported to contain 11–34 repeats, the clinical appearance of HD in the proband is explained by the presence of the repeat expansion.Discussion– The parents of the proposita both died aged over 80 y apparently without neurological signs referable to HD. Hence, this is presumably a sporadic case of the disease. Because of the length of 41 repeats of this HD chromosome, offspring of this proband could inherit the expanded allele with 37 repeats, as expected for the reversal of the trinucleotide expansion. A subject with this intermediate allele could be affected, but would not be affected if the HD IT gene with reduced triplets had recovered its normal function. Thus, in a seemingly sporadic case like the one reported here, despite the PCR analysis, the risk of transmission of HD to her offspring may

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb01026.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Introduction‐ Posatirelin (L‐pyro‐2–aminoadipyl‐L‐leucil‐L‐prolinamide) a new synthetic tripeptide with cholinergic, catecholaminergic and neurotrophic properties, was investigated in the treatment of Alzheimer's disease.Material and methods‐ A multicentre, double‐blind studyvsciticoline (reference drug) and ascorbic acid (inactive drug) was carried out in elderly patients suffering from late‐onset Alzheimer's disease. The once daily intramuscular treatment lasted for three months followed by one‐month oral treatment with a placebo. Subscales and factors of GBS (Gottfries‐Bråne‐Steen) Rating Scale were identified as primary measures for efficacy assessment.Results‐ At the end of the treatment, GBS subscale and factor scores assessing intellectual and emotional impairments, orientation and memory, ability to perform activities of daily living, depression‐anxiety, attention and motivation were improved in the posatirelin group, showing significant differences with respect to the citicoline and/or ascorbic acid groups. Tolerability was good in all groups.Conclusions‐ The improvement in the GBS Rating Scale scores observed in the posatirelin group is clinically relevant. It is worth verifying the drug‐induced functional improvements, i

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb01027.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

A study of the electrically induced blink reflex was performed on 17 patients with amyotrophic lateral sclerosis (ALS), graded according to the voluntary and reflexive blinking ability. In the early stage, delay of bilateral R2 latencies, decrease of bilateral R2 amplitudes and disappearance of the contralateral R2 component occurred. Then, the ipsilateral R2 component vanished when the voluntary blinking was incomplete. In cases with the remaining R2 component, the recovery curves of R2 amplitude revealed the weakened influence of the central nervous system to the interneurons that constructed the R2 component. In highly impaired patients who had lost the reflexive blinking ability, the R1 component had disappeared. Electrically induced blink reflex is useful in assessing the degree of disability in the upper facial muscles.

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb01028.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Introduction– We determined the diagnostic accuracy of the Mini‐Mental State Examination (MMSE) for dementia of the Alzheimer type (DAT) in an outpatient geriatric referral center in Switzerland.Material&methods– DAT patients and elderly controls were assigned to two groups: a validation sample (70 DAT patients; 50 controls) and a cross‐validation sample (133 DAT patients; 43 controls). A Receiver Operating Characteristic curve was generated to derive the optimal MMSE cut‐off score in the validation sample.Results‐ The optimal MMSE cut‐off was<26/30 (sensitivity of 74%, specificity of 100%). Adjustments for age and education were necessary. The cross‐validation confirmed these findings.Conclusion– In a clinical setting the MMSE cut‐off should be increased to<26/30. A thorough neurobehavioral assessment is still necessary for a

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb01029.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Recent advances in magnetic resonance imaging (MRI) technology have had a great impact on the delectability of minute, asymptomatic lesions of the central nervous system. The clinical significance and treatment modes of these lesions, such as white matter hyperintensity (WMH) lesions detected by T2 MRI, remain controversial. To address these problems, we retrospectively evaluated WMH lesions in relation to clinical parameters for 240 neurologically asymptomatic persons who had visited a hospital for a medical check‐up of the brain. Proton and T2–weighted MRI were obtained using a 0.5 T superconducting MR imager using the spin echo technique with a repetition time (TR) of 2800 msec. An echo delay times (TE) of 40 msec was used for the proton MRI, and a TE of 100 msec was used for the T2‐weighted MRI. The images were visually analyzed according to a four‐point grading system. The MRI findings were correlated with clinical parameters including age, gender, presenting symptoms, and hypertension. The overall frequency of WMH increased with age. Grades 2 and 3 of WMH were more frequent in aged persons, whereas the occurrence of grade 1 WMH remained relatively constant across age groups. Based on multiple regression analysis, age was the most significant variable influencing the frequency of WMH, followed by hypertension. These results imply that WMH lesions may simply be a phenomenon of aging, or may be an indicator of prepathologic state in an ischemi

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb01030.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Introduction‐ To clarify the relationship between visual disturbances caused by pituitary adenomas and the degree of chiasmal compression, MRI (1.5T) findings were assessed two dimensionally.Material and methods‐ 50 cases of pituitary adenomas and 17 control cases were studied. The position of the optic chiasm was measured by the distance from the line of the frontal base and posterior clinoid process on the sagittal T1 weighted image, and from the upper surface of the bilateral internal carotid artery on the coronal T1 image.Result‐ Visual disturbances appeared when the chiasm was displaced to more than 8 mm above the aforesaid reference level on the sagittal image and more than 13 mm above on the coronal image. There was a good correlation between the appearance of visual field defects and the degree of chiasmal compression.Conclusion‐ The degree of chiasmal displacement measured by MRI two dimensionally can provide useful information for predicting the appearance of visual distu

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1995.tb01031.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY