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Molecular Mimicry and Multiple Sclerosis
Ebringer and colleaguesreview the evidence for molecular mimicry between brain tissues and possible environmental microbes. Myelin sequences known to produce experimental allergic encephalomyelitis in guinea pigs were examined using GenBank and SwissProt databases. The ubiquitous saprophytic microbe, Acinetobacter, was found to possess such a sequence. It is yet to be determined if this organism may be the triggering agent causal of multiple sclerosis, but it might be used, as discussed, as a disease marker that could predict the occurrences of relapses in patients with multiple sclerosis and/or monitor response to therapy.
Carnitine Palmitoyltransferase II Deficiency: Clinical and Molecular Genetic Features and Diagnostic Aspects
Deschauer and colleaguesreview their extensive experience with patients with carnitine palmitoyltransferase II deficiency. For screening patients, analysis of not only the common S113L mutation but also the P50H and Q413fs-F448L mutations is recommended. The phenotype of muscle carnitine palmitoyltransferase II deficiency might be influenced by the underlying mutation, and patients with a truncating mutation on 1 allele might be affected more severely.
Polyglutamine Diseases and Transport Problems: Deadly Traffic Jams on Neuronal Highways
Gunawardena and Goldsteindescribe in an elegant review recent data indicating that disruption of axonal transport pathways with long, narrow-caliber axons could lead to protein accumulations that can elicit neuronal death. This could ultimately cause a neuronal dysfunction pathway in the CAG polyglutamine expansion diseases. Pertubations in transport pathways may be an early event involved in instigating polyglutamine-disease pathologic features.
Weight Loss and Dementia
Stewart and colleaguesin the Honolulu-Asia Aging Study review their series of patients with dementia and associated weight loss. Weight loss occurs particularly prior to and around the onset of the clinical syndrome. The association was similar in Alzheimer disease and vascular dementia. Editorial perspective is provided by Michael Grundman, MD.
Statins for Cerebral Ischemia
Ovbiagele and colleaguesassess the impact on clinical practice of broadening indications for use of statins in patients with stroke. In a rigorous study, they conclude that most clinically encountered patients with ischemic stroke meet clinical trial–validated criteria for initiation of statin therapy. Editorial perspective is provided by Dilip K. Pandey, MD, PhD, and Philip B. Gorelick, MD, MPH.
Percentage of patients with ischemic stroke and transient ischemic attack who met criteria for mandated and optional initiation of statin therapy, according to various panel guidelines, the Heart Protection Study (HPS) trial, the HPS-based US Food and Drug Administration (FDA) labeling, and an atherosclerotic stroke mechanism algorithm (ASMA). EJTF indicates European Joint Task Force II; NCEP-ATP III, National Cholesterol Education Program.
Alcohol Dehydrogenase Mutations and Parkinson Disease
Buervenich and colleaguesin an international study show that the G78stop mutation in ADH1C was found in 22 (2.0%) of the patients with Parkinson disease but only in 6 controls (0.6%). Their data provide further evidence for mutations in genes encoding alcohol dehydrogenases as genetic risk factors for Parkinson disease.
Parkin Mutations and Early-Onset Parkinsonism
Wu and colleaguesevaluate the frequency of the parkin gene (PRKN) in a Taiwanese cohort of patients with early-onset parkinsonism to explore genotype-phenotype correlations. Four (9.8%) of 41 probands had PRKN mutations. Mutations in PRKN are a rare cause of early-onset parkinsonism in Taiwanese (ethnic Chinese) subjects.
Pesticides and Parkinson Disease
Firestone and colleaguesinvestigate pesticide exposures and parkinsonism in western Washington State. The findings for occupational pesticide exposures are consistent with a growing body of information linking pesticide exposure with Parkinson disease. However, in the population studied, the absence of associations with home-based exposures and weak associations with rural exposures suggest that pesticides did not play a substantial etiologic role in this population.
α-Synuclein Gene Dosage in Familial Parkinson Disease
Gispert and colleaguesanalyze the α-synuclein gene dosage in 190 unrelated patients with familial Parkinson disease using polymerase chain reaction amplification. None of the samples showed α-synuclein triplication, duplication, or deletion, indicating that alterations in α-synuclein gene dosage are rare in familial Parkinson disease.
Bone Density and Risk of Alzheimer Disease
Tan and colleaguesexamine whether low bone mineral density is associated with an increased risk of developing Alzheimer disease. In a detailed analysis, they find that low femoral neck bone mineral density was associated with about 2 times the risk of Alzheimer disease and all-cause dementia in women but not men.
Blood Pressure Levels Before Dementia
Petitti and colleaguesexamine the relationship between blood pressure during a 10-year period and the prevalence of dementia. Systolic blood pressure increased with time in the unimpaired and increased less in women who developed cognitive impairment and in women who developed dementia. Diastolic blood pressure declined significantly with time in all 3 groups. The adjusted rate of decline in diastolic blood pressure was significantly greater for the women who developed dementia in comparison with unimpaired women.
Misra and colleaguesstudied patients with Hirayama disease, which is a segmental nonprogressive spinal muscular atrophy found in male patients. Clinical, magnetic resonance imaging, electromyography, and survival motor neuron gene analyses in 15 patients are reported.
Steroid Therapy in Duchenne Muscular Dystrophy
Beenakker and colleaguesstudied the effects of prednisone on muscle function and on the quality of life in patients with Duchenne muscular dystrophy. They find that prednisone slowed deterioration of muscle function and muscle force in patients. The quality of life was not affected.
This Month in The Archives of Neurology. Arch Neurol. 2005;62(1):18–19. doi:10.1001/archneur.62.1.18
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