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Observational studies suggest that high homocysteine levels are a risk factor for brain atrophy and Alzheimer disease, but intervention studies have been inconclusive. New evidence that B vitamin therapy can slow brain atrophy will allow re-examination of elevated homocysteine levels as a potentially treatable risk factor for this disease.
Mutations in six genes have been unequivocally linked to Parkinson disease (PD). A recent study found that among 953 patients with the early-onset form of PD, ≈17% harbored a mutation in one of these genes. This finding raises important issues concerning genetic testing and genetic counseling for early-onset PD.
The development of disease-modifying therapies for amyotrophic lateral sclerosis (ALS) is a priority for researchers in this field. Two studies have independently identified plasma and cerebrospinal fluid biomarkers for ALS, and these biomarkers could provide a means of testing the efficacy of novel ALS drug treatments in future clinical trials.
Dolichoectasia is a condition that causes dilatation and/or tortuosity of both intracranial and extracranial arteries. Intracranial dolichoectasia can be asymptomatic or manifest with compressive and/or vascular symptoms, such as cranial neuropathies or hemorrhagic stroke. In this article, Gutierrez et al. provide a review of the existing dolichoectasia literature and identify gaps in our knowledge to aid future research.
Copper metabolism is critical for numerous biological processes, and is mediated by various copper chaperones and transporters, including copper-transporting ATPase 1 (ATP7A). Here, Kaler examines the role of ATP7A in normal neurological function, and explores the three distinct clinical syndromes—Menkes disease, occipital horn syndrome and the newly described ATP7A-related adult-onset distal motor neuropathy—that are associated withATP7Amutations.