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Editors' ChoiceLinks to important articles and articles of particular interest chosen by the Editors |
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Neurology on Wheels ⧉
An outreach of care. The way forward.By Dr. Bindu Menon MD, DM, and Dr. Medha Menon, MBBS As goes the epidemiological transition from communicable to non-communicable diseases (NCDs), India stands at the precipice of having to balance the burden of both. While managing communicable diseases like a wound that has not yet scabbed, the rising trends of NCDs like stroke, cardiovascular events, and cancers further predispose the population to infections, making them difficult to curb.
Brain Stimulation for Psychiatric Indications Preceded Movement Disorders - A historical sketch. ⧉ Most neurologists are probably unfamiliar with the history of deep brain stimulation (DBS). Although Parkinson's disease (PD) is probably the best-known indication, several refractory psychiatric disorders may be treated by DBS. Obsessive compulsive disorder (OCD) and depression may be mentioned with this respect. A recent dissertation from the University of Utrecht, Netherlands, by psychologist Max van der Linden shows that research in this field had already started in the 1950s.
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Alzheimer's disease with a CADASIL twist - neuropathological examination proves its value in clarifying the genetics behind familial dementia ⧉EDITORIAL| VOLUME 452, 120769, SEPTEMBER 15, 2023. Liisa Myllykangas
One of the greatest success stories in the research of dementia disorders has been the genetic characterization of rare familial forms of these diseases. During the past ∼30 years, many familial diseases have been solved genetically, and these discoveries have led to the identification of several key molecules involved in their pathogenesis. For example, dominantly inherited amyloid precursor protein (APP) mutations were found to underlie some rare familial forms of AD, which led to recognition for the central role of the APP molecule in the pathogenesis of AD.
Identification of NOTCH3 mutations behind cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) was an important landmark in the study of cerebrovascular disease. Furthermore, the genetic discoveries made genetic counselling possible and thus helped many families with inherited dementia disorders.
NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease ⧉RESEARCH ARTICLE| VOLUME 452, 120763, SEPTEMBER 15, 2023 Olena Korvatska, Stephanie A. Bucks, Rebecca A. Yoda, Amber Nolan, Michael O. Dorschner, Debby Tsuang, Suman Jayadev, Wendy H. Raskind, Thomas D. Bird NOTCH3 is the causative gene for autosomal dominant cerebral arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) which is associated with both stroke and dementia. When CADASIL presents primarily as dementia it can be difficult to distinguish from Alzheimer's disease (AD) at both the clinical and neuropathological levels. Researchers performed exome sequencing of several affected individuals from a large family affected with AD. PCR amplification and direct Sanger sequencing were used to verify variants detected by exome analysis and to screen family members at-risk to carry those variants. Neuropathologic brain evaluation by immunohistochemistry and MRI were performed for the carriers of the NOTCH3 variant. Their findings, together with other reported pathogenic missense variants of the C201 codon in NOTCH3, support the role of cysteine 201 as a mutation hotspot for CADASIL and highlight the genetic complexity both clinically and pathologically of AD and related dementia.
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OPEN ACCESS JOURNAL
Advocacy for patients with headache disorders. ⧉Eneurologicalsci. 2023 May 10:100466. Gouider R, Lorenz DH, Craven A, Grisold W, Dodick DW.
Primary headache disorders are worldwide highly prevalent and burdensome and should be therefore considered as a global public health priority. However, too many patients with primary headache disorders still do not receive satisfying care. The most likely identified reasons for such a scenario - lack of public awareness, stigma, lack of trained professionals with inadequate healthcare systems and policies - are remediable. Despite the progresses that were made in headache advocacy, these efforts have not yielded substantial improvements in research funding or access to specialty care and even standards of care. The situation is more complex in Low and Middle Income Countries (LMICs) where headache advocacy is urgently needed given the magnitude of the difficulties that patients with primary headache disorders face in accessing care. The growing emergence of coordinated, collaborative, patient-centered advocacy efforts with improved patient-clinician partnership is an opportunity to enhance progress in advocacy for a satisfying life and optimal and equitable care for people with primary headache disorders. LMICs can benefit greatly from coordinating these efforts on a global scale. The recent organization of a training program on headache diagnosis and management for healthcare professionals in Africa is a concrete example.
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