| 1. |
- Bone, L., et al.
(författare)
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New connexin32 muations associated with X-linked Charcot-Marie-Tooth disease
- 1995
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Ingår i: Neurology. - 0028-3878 .- 1526-632X. ; 45:10, s. 1863-6
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Tidskriftsartikel (refereegranskat)abstract
- Analysis of the connexin32 gene in patients with X-linked Charcot-Marie-Tooth disease shows mutations distributed throughout the molecule, with all domains affected except the fourth transmembrane domain and the distal carboxy terminus. Sequence analysis of DNA from 19 unrelated patients detected six novel mutations and three previously reported mutations. Identification of additional mutations extends the distribution of connexin32 mutations in X-linked Charcot-Marie-Tooth disease and shows that specific mutations recur in additional families.
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| 2. |
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| 3. |
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| 4. |
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| 5. |
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| 6. |
- Fogdell, A, et al.
(författare)
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Linkage analysis of HLA class II genes in Swedish multiplex families with multiple sclerosis
- 1997
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Ingår i: Neurology. - : Ovid Technologies (Wolters Kluwer Health). - 0028-3878 .- 1526-632X. ; 48:3, s. 758-762
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Tidskriftsartikel (refereegranskat)abstract
- Article abstract-We assessed the influence of human leukocyte antigen (HLA) class II as susceptibility genes in multiple sclerosis (MS) by linkage analysis. Other research groups, who have shown negative results in studies on affected sibling pairs, have questioned the influence of the HLA class II genes, although they confirmed the association of the DR15,DQ6,Dw2 haplotype to MS. In this report, we find a significant lod score (>3) when using a 2-point linkage analysis of 49 small Swedish nuclear MS families with at least two affected family members, typed for HLA class II alleles by PCR amplification with sequence-specific primers. We obtained maximum lod scores when we used dominant or intermediate models with low penetrance. We found that the positive effect on the total lod score was not confined to those families carrying the presumed susceptibility HLA-haplotype Dw2. This observation supports the notion of a functional role of the HLA class II molecules themselves in MS. In addition, we observed significant transmission distortion and an intrafamilial association of the MS-associated class II haplotype HLA-Dw2. These results indicate that the HLA class II genes are of clear importance for MS in the studied population.NEUROLOGY 1997;48: 758-762
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| 7. |
- Fratiglioni, L, et al.
(författare)
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Very Old Women at Highest Risk of Dementia and Alzheimer's Disease : Incidence Data from the Kungsholmen Project, Stockholm
- 1997
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Ingår i: Neurology. - : American Academy of Neurology. - 0028-3878 .- 1526-632X. ; 48:1, s. 132-138
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To determine the incidence of different types of dementia in the very old, and to explore the relation with age and gender. Design: A dementia-free cohort was followed for an average of three years in Stockholm, Sweden. At the end of the follow-up, the subjects were interviewed by nurses, clinically examined by physicians, and cognitively assessed by psychologists. Deceased cohort members were studied using death certificates, hospital clinical records, and discharge diagnoses. Dementia diagnoses were made according to the DSM-III-R criteria independently by two physicians. Participants: The cohort consisted of 1,473 subjects (75+ years old), of which 987 were clinically examined at follow-up, 314 died before the examination, and 172 refused to participate. Results: During the follow-up, 148 subjects developed dementia. In the age-group 75 to 79, the incidence rates for dementia were 19.6 for women and 12.4 for men per 1,000 person-years, whereas for 90+ year-old subjects the corresponding figures were 86.7 and 15.0 per 1,000 person-years. A similar pattern of distribution by age and gender was seen for Alzheimer's disease. In each age stratum, the incidence rates of dementia and Alzheimer's disease were higher for women than for men. The age-adjusted odds ratio for women was 1.9 for dementia and 3.1 for Alzheimer's disease. Conclusions: (1) The incidence of dementia increases with age, even in the oldest age groups; (2) women have a higher risk of developing dementia than men, especially at very old ages; (3) this pattern is mainly due to the age and gender distribution of Alzheimer's disease, rather than vascular dementia.
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| 8. |
- Kivisakk, P, et al.
(författare)
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Optic neuritis and cytokines: no relation to MRI abnormalities and oligoclonal bands
- 1998
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Ingår i: Neurology. - : Ovid Technologies (Wolters Kluwer Health). - 0028-3878 .- 1526-632X. ; 50:1, s. 217-223
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Tidskriftsartikel (refereegranskat)abstract
- Acute unilateral monosymptomatic optic neuritis (ON) is a common first manifestation of MS if associated with multiple MS-like lesions on brain MRI and oligoclonal IgG bands (OB) in the CSF, whereas ON patients lacking these laboratory abnormalities are considered to have a good prognosis regarding future MS development. Several cytokines involved in immune regulation are upregulated in blood and even more noticeable in CSF in MS. To study a possible relation between cytokine profiles and presence versus absence of MS-like brain MRI lesions and CSF OB, we used in situ hybridization to examine mRNA expression of the proinflammatory interleukin-12 (IL-12), interferon-γ, and tumor necrosis factor-α and the immune response downregulating IL-10, transforming growth factor-β and IL-4 in blood and CSF mononuclear cells (MNC) from 59 patients with untreated ON. There were no differences in numbers of MNC in blood or CSF expressing any of the cytokines under study, upon subgrouping the ON patients regarding presence (n = 31) versus absence (n = 28) of MRI lesions, presence (n = 45) versus absence (n=14) of OB, or duration after onset of ON (<1 month, n = 30, versus >1 month, n = 29). Similarly, no differences were observed for numbers of myelin basic protein-reactive blood MNC expressing any of these cytokines after subrouping according to these variables. Our findings suggest that the cytokine profile, as examined in this study, is less useful to determine the risk of future development of clinically definite MS in ON patients or as indicator for therapeutic interventions in ON. An upregulation of both pro- and anti-inflammatory cytokines in ON patients seems to be more related to the CNS disease per se, whether limited to the optic nerve or not, than to the inflammatory process characteristic for MS.
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| 9. |
- Kremer, B, et al.
(författare)
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Influence of lamotrigine on progression of early Huntington disease : a randomized clinical trial.
- 1999
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Ingår i: Neurology. - 0028-3878 .- 1526-632X. ; 53:5, s. 1000-11
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To assess the efficacy of lamotrigine, a novel antiepileptic drug that inhibits glutamate release, to retard disease progression in Huntington disease (HD).BACKGROUND: Excitatory amino acids may cause selective neuronal death in HD, and lamotrigine may inhibit glutamate release in vivo.METHODS: A double-blinded, placebo-controlled study was conducted of 64 patients with motor signs of less than 5 years' duration who were randomly assigned to either placebo or lamotrigine and assessed at 0 (baseline), 12, 24, and 30 months. The primary response variable was total functional capacity (TFC) score. Secondary response variables included the quantified neurological examination and a set of cognitive and motor tests. Repeated fluorodeoxyglucose measurements of regional cerebral metabolism using PET also were included.RESULTS: Fifty-five patients (28 on lamotrigine, 27 on placebo) completed the study. Neither the primary response variable nor any of the secondary response variables differed significantly between the treatment groups. Both the lamotrigine and the placebo group deteriorated significantly on the TFC, in the lamotrigine group by 1.89 and the placebo group by 2.11 points. No effect of CAG size on the rate of deterioration could be detected.CONCLUSIONS: There was no clear evidence that lamotrigine retarded the progression of early Huntington disease over a period of 30 months. However, more patients on lamotrigine reported symptomatic improvement (53.6 versus 14.8%; p = 0.006), and a trend toward decreased chorea was evident in the treated group (p = 0.08). The study also identified various indices of disease progression, including motor tests and PET studies, that were sensitive to deterioration over time.
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| 10. |
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| 11. |
- Malm, J, et al.
(författare)
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Cognitive impairment in young adults with infratentorial infarcts.
- 1998
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Ingår i: Neurology. - 0028-3878 .- 1526-632X. ; 51:2, s. 433-40
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To describe cognitive functions and functional outcome in young patients with isolated infratentorial infarcts.BACKGROUND: Contemporary knowledge implies a cerebellar contribution to cognitive behavior. Neuropsychological examination of patients with selective cerebellar lesions provides an opportunity to document the existence and nature of clinically relevant cognitive manifestations from lesions of the cerebellum.METHODS: Prospective case series. The patients were assessed acutely and at 4 and 12 months after onset. Twenty-four patients from a consecutive series of 105 patients aged 18 to 44 years with cerebral infarction had a brain stem or cerebellar infarction. Fourteen age-matched controls were used for neuropsychological comparisons. Evaluation included MRI, angiography, and transesophageal echocardiography. Disability and neurologic dysfunction were assessed by the modified Rankin scale, NIH stroke scale, and maximal working capacity. A comprehensive neuropsychological battery was performed at baseline in 20 of the 24 patients.RESULTS: Eighteen patients had a cerebellar infarct. Two patients had lateral medullary infarcts, and two isolated pontine infarcts. Twenty-two patients had a favorable outcome according to the modified Rankin scale (grade 0-2) and the NIH scale. In contrast, 12 patients were granted full or partial sick leave at the 4 months follow-up, and 10 patients at 12 months. Patients generally performed worse than controls in various aspects of cognitive function, especially in tasks concerning working memory, the temporary storage of complex information, and cognitive flexibility. Measures of verbal IQ (r = -0.74) and performance IQ (r = -0.78) were related to the size of the infarct. The block design task performance in the early poststroke period predicted maximal working capacity at 12 months.CONCLUSIONS: Cerebellar damage impairs central aspects of attention and visuospatial skills. In contrast, intelligence and episodic memory remain unchanged. When the lesion involves large portions of the cerebellar hemispheres, changes concerning broad areas of intelligence may occur. The prognosis is favorable for neurologic dysfunction, but cognitive deficits may prevent return to work.
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| 12. |
- Melberg, Atle, et al.
(författare)
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Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy
- 1999
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Ingår i: Neurology. - : Ovid Technologies (Wolters Kluwer Health). - 0028-3878 .- 1526-632X. ; 53:9, s. 2190-2
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Tidskriftsartikel (refereegranskat)abstract
- Four patients affected with autosomal dominant cerebellar ataxia, deafness, and narcolepsy underwent brain CT and MRI. Radiologic findings were supratentorial atrophy (more pronounced than infratentorial atrophy), pronounced dilatation of the third ventricle, low T2 signal intensity in the basal ganglia, loss of cerebral cortex-white matter differentiation, and periventricular high-signal rims. 2-[18F]Fluoro-2-deoxy-D-glucose PET was done with one patient, without specific findings. Genetic analyses excluded SCA-1, SCA-2, SCA-3, SCA-6, SCA-7, DRPLA, and huntingtin gene mutations.
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| 13. |
- Nyrén, Olof, et al.
(författare)
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Breast implants and risk of neurologic disease : a population-based cohort study in Sweden
- 1998
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Ingår i: Neurology. - 0028-3878 .- 1526-632X. ; 50:4, s. 956-961
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To examine the risk of neurologic disorders among women with breast implants. BACKGROUND: Case reports in the literature have raised concern about a possible link between silicone breast implants and some types of neurologic disorders, but there is a dearth of epidemiologic studies in this area. METHODS: Through the nationwide Swedish hospital discharge register, we identified a population-based cohort of 7433 women with breast implants. A similarly identified cohort of 3351 women who underwent breast reduction surgery served as a comparison. The women were followed from 1972 (or date of breast surgery if it occurred later) through 1993 by means of record linkages and review of inpatient medical records. Ratios of observed to expected numbers, and relative risks (RR) with 95% confidence intervals (CI), were calculated as measures of the risk of neurologic diseases among women with implants. RESULTS: A direct comparison of the exposed (implant) versus comparison (breast reduction) groups, after exclusion of patients with pre-existing disease or incorrect neurologic diagnoses, showed no excess risk among implant patients (RR = 0.8; 95% CI = 0.5 to 1.4). When external rates derived from the background population were used as comparison, we found a small, statistically nonsignificant excess of neurologic disorders both in the breast implant (RR = 1.3; 95% CI = 0.9 to 1.9) and the breast reduction (RR = 1.5; 95% CI = 0.9 to 2.4) cohorts. CONCLUSION: Our results provide no support for the conjecture that breast implants cause neurologic disease.
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| 14. |
- Olsson, T, et al.
(författare)
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IFN-secreting cells
- 1996
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Ingår i: Neurology. - : Ovid Technologies (Wolters Kluwer Health). - 0028-3878 .- 1526-632X. ; 47:3, s. 854-854
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 15. |
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| 16. |
- Sheu, KFR, et al.
(författare)
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A DLST genotype associated with reduced risk for Alzheimer's disease
- 1999
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Ingår i: Neurology. - : Ovid Technologies (Wolters Kluwer Health). - 0028-3878 .- 1526-632X. ; 52:7, s. 1505-1507
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Tidskriftsartikel (refereegranskat)abstract
- Article abstract Recent studies suggest that variants of the DLST gene alter the risk of AD. DLST encodes the core subunit of the mitochondrial α-ketoglutarate dehydrogenase complex, which is deficient in AD. The authors report that in 247 US white subjects, homozygosity for DLST A19,117, T19,183 was associated with a reduced risk of AD (odds ratio [OR] = 0.35, p = 0.018). The reduced risk was marked in subjects who did not carry the apolipoprotein (APOE)-4 allele (OR = 0.16, p = 0.014). Further study of DLST in AD appears warranted.
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| 17. |
- Soderfeldt, B, et al.
(författare)
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Signed and spoken language perception studied by positron emission tomography
- 1997
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Ingår i: Neurology. - : Ovid Technologies (Wolters Kluwer Health). - 0028-3878 .- 1526-632X. ; 49:1, s. 82-87
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Tidskriftsartikel (refereegranskat)abstract
- Sign and spoken language seem to be localized in the same brain areas. They elicit similar regional cerebral blood flow (rCBF) patterns, even though sign language is dependent on spatial information. We investigated sign and spoken language perception in a group of healthy bilingual subjects. Four videotaped activation conditions were used during PET imaging: (1) sign language, (2) spoken language, (3) spoken language with mouth covered, and(4) spoken language on a sound track while showing a motionless face. Spoken language (condition 4) activated significantly the perisylvian cortex(Brodmann areas 22 and 43) bilaterally. Sign language activated the visual association areas (Brodmann areas 37 and 19) but did not selectively activate parietal regions. A reciprocal relationship was observed between the level of activation in visual language perception areas and that in auditory perception areas. We conclude that when healthy bilingual subjects use the visual route for sign language perception, the functional anatomy overlaps that of language processing containing both auditory and visual components.
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| 18. |
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| 19. |
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| 20. |
- Tullberg, Mats, 1965, et al.
(författare)
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CSF neurofilament and glial fibrillary acidic protein in normal pressure hydrocephalus.
- 1998
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Ingår i: Neurology. - : Ovid Technologies (Wolters Kluwer Health). - 0028-3878 .- 1526-632X. ; 50:4, s. 1122-7
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Tidskriftsartikel (refereegranskat)abstract
- We examined CSF levels of markers of neuronal degeneration and astrogliosis-the light subunit of the neurofilament triplet protein (NFL) and the glial fibrillary acidic protein (GFAP)-in 65 patients with normal pressure hydrocephalus (NPH). NFL was increased sixfold (864 +/- 1,538 [mean +/- SD] versus 156 +/- 81 ng/L; p < or = 0.001) and GFAP twofold (1,116 +/- 1,085 versus 637 +/- 295 ng/L; p < or = 0.01) in NPH patients compared with neurologically healthy age-matched controls. No correlation was found between any particular symptom or sign and GFAP levels in CSF. The levels of NFL, on the other hand, were higher in patients with severe symptoms compared with those with moderate or no symptoms. Furthermore, there was a correlation between a high level of NFL and gait disturbance, incontinence, psychometric incapability, and social dysfunction. A high preoperative NFL level was associated with favorable outcome after shunt surgery. This indicates that NFL is a marker of ongoing and possibly still-reversible axonal damage in NPH.
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| 21. |
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| 22. |
- Andreasen, N, et al.
(författare)
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Sensitivity, specificity, and stability of CSF-tau in AD in a community-based patient sample
- 1999
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Ingår i: Neurology. - 1526-632X. ; 53:7, s. 1488-1488
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To evaluate the sensitivity and specificity of CSF-tau in clinical practice as a diagnostic marker for AD compared with normal aging and depression, to study the stability of CSF-tau in longitudinal samples, and to determine whether CSF-tau levels are influenced by different covariates such as gender, age, duration or severity of disease, or possession of the APOE-epsilon4 allele. METHODS: Consecutive AD patients from a community-based sample were studied, including 407 patients with AD (274 with probable AD and 133 with possible AD), 28 patients with depression, and 65 healthy elderly control subjects. A follow-up lumbar puncture was performed in 192 AD patients after approximately 1 year. CSF-tau was determined using a sandwich ELISA, which was run as a routine clinical neurochemical analysis. RESULTS: CSF-tau was increased in probable (690+/-341 pg/mL; p < 0.0001) and possible (661+/-447 pg/mL; p < 0.0001) AD, but not in depression (231+/-110 pg/mL) compared with control subjects (227+/-101 pg/mL). Receiver operating characteristics analysis showed that a cutoff level of 302 pg/mL resulted in a sensitivity of 93% (95% CI, 90-96%) and a specificity of 86% (95% CI, 75-94%), with an area under the curve of 0.95 to discriminate AD from control subjects. Within the AD group, CSF-tau did not differ significantly between baseline and follow-up investigations, and was relatively stable between baseline and 1-year follow-up levels, with a coefficient of variation of 21.0%. High CSF-tau levels were also found in most AD patients with very short duration of dementia, and with Mini-Mental State Examination scores >23 (n = 205). In total, 193 of 205 patients (sensitivity, 94%) had a CSF-tau level higher than 302 pg/mL. CONCLUSIONS: CSF-tau has a high sensitivity and specificity to differentiate AD from normal aging and depression, as demonstrated in a large community-based series of consecutive AD patients during which analyses were run continually in a clinical neurochemical laboratory. The increase in CSF-tau is found very early in the disease process in AD, is stable over time, and has a low interindividual variation on repeated sampling. Although high CSF-tau is found in some neurologic conditions (e.g., stroke), these findings suggest that CSF-tau may be of use to help in differentiating AD from normal aging and depression, especially early in the course of the disease, when the symptoms are vague and the diagnosis is especially difficult.
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| 23. |
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| 27. |
- Berger, AK, et al.
(författare)
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The occurrence of depressive symptoms in the preclinical phase of AD - A population-based study
- 1999
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Ingår i: NEUROLOGY. - : LIPPINCOTT WILLIAMS & WILKINS. - 0028-3878. ; 53:9, s. 1998-2002
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To examine preclinical depressive symptoms 3 years before the diagnosis of AD. Methods: The authors compared incident AD patients and nondemented individuals in terms of baseline mood- and motivation-related symptoms of depression, and assesse
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| 28. |
- Bäckman, Lars, et al.
(författare)
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Brain regions associated with episodic retrieval in normal aging and Alzheimer's disease
- 1999
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Ingår i: NEUROLOGY. - : LIPPINCOTT WILLIAMS & WILKINS. - 0028-3878. ; 52:9, s. 1861-1870
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To examine patterns of brain activation during verbal episodic retrieval in normal elderly subjects and patients in an early phase of AD. Background: It is established that 1) a profound episodic memory impairment is a cardinal symptom of AD;
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| 32. |
- Johansson, K, et al.
(författare)
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Can sensory stimulation improve the functional outcome in stroke patients?
- 1993
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Ingår i: Neurology. - 1526-632X. ; 43:11, s. 2189-2192
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Tidskriftsartikel (refereegranskat)abstract
- After obtaining informed consent, we randomized 78 patients with severe hemiparesis of the left or right side within 10 days of stroke onset: 40 to a control group receiving daily physiotherapy and occupational therapy, and 38 to a group that, in addition, we treated with sensory stimulation (acupuncture) twice a week for 10 weeks. The median age was 76 years for both groups. Motor function, balance, and ADL (Barthel's Index) were assessed before the start of treatment and at 1 and 3 months after stroke onset; ADL was also assessed after 12 months. We assessed the quality of life (QL) using the Nottingham Health Profile 3, 6, and 12 months after stroke onset. Patients given sensory stimulation recovered faster and to a larger extent than the controls, with a significant difference for balance, mobility, ADL, QL, and days spent at hospitals/nursing homes. Whether acupuncture per se is responsible for the differences requires further study.
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