Annals of clinical and translational neurology
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Ann Clin Transl Neurol · Feb 2019
Risk factors for respiratory failure in Guillain-Barré syndrome in Bangladesh: a prospective study.
We investigated clinical, biological, and electrophysiological risk factors for mechanical ventilation (MV) and patient outcomes in Bangladesh using one of the largest, prospective Guillain-Barré syndrome (GBS) cohorts in developing world. ⋯ Bulbar involvement, dysautonomia and severe muscle weakness were identified as the most important risk factors for MV among GBS patients from Bangladesh. The findings may help to develop predictive models for MV in GBS in developing countries to identify impending respiratory failure and proper clinical management of GBS patients.
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Ann Clin Transl Neurol · Jan 2019
Patterns of gray matter alterations in migraine and restless legs syndrome.
Migraine and restless legs syndrome (RLS) are often comorbid and share elements of pathology; however, their neuroanatomical underpinnings are poorly understood. This study aimed to identify patterns of gray matter volume (GMV) alteration specific to and common among patients with RLS, migraine, and comorbid migraine and RLS. ⋯ Migraine and RLS are characterized by shared and distinctive neuroanatomical characteristics, with a specific role of the MFG. These findings may be related to shared pathophysiology of these two distinct disorders.
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Ann Clin Transl Neurol · Sep 2018
Presymptomatic white matter integrity loss in familial frontotemporal dementia in the GENFI cohort: A cross-sectional diffusion tensor imaging study.
We aimed to investigate mutation-specific white matter (WM) integrity changes in presymptomatic and symptomatic mutation carriers of the C9orf72,MAPT, and GRN mutations by use of diffusion-weighted imaging within the Genetic Frontotemporal dementia Initiative (GENFI) study. ⋯ This study demonstrates the presence of early and widespread WM integrity loss in presymptomatic FTD, and suggests a clear genotypic "fingerprint." Our findings corroborate the notion of FTD as a network-based disease, where changes in connectivity are some of the earliest detectable features, and identify diffusion tensor imaging as a potential neuroimaging biomarker for disease-tracking and -staging in presymptomatic to early-stage familial FTD.
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Ann Clin Transl Neurol · Apr 2018
Phosphodiesterase-5 inhibition potentiates cerebrovascular reactivity in chronic traumatic brain injury.
Traumatic cerebrovascular injury (TCVI), a common consequence of traumatic brain injury (TBI), presents an attractive therapeutic target. Because phosphodiesterase-5 (PDE5) inhibitors potentiate the action of nitric oxide (NO) produced by endothelial cells, they are candidate therapies for TCVI. This study aims to: (1) measure cerebral blood flow (CBF), cerebrovascular reactivity (CVR), and change in CVR after a single dose of sildenafil (ΔCVR) in chronic TBI compared to uninjured controls; (2) examine the safety and tolerability of 8-week sildenafil administration in chronic symptomatic moderate/severe TBI patients; and as an exploratory aim, (3) assess the effect of an 8-week course of sildenafil on chronic TBI symptoms. ⋯ Single-dose sildenafil improves regional CVR deficits in chronic TBI patients. CVR and ΔCVR are potential predictive and pharmacodynamic biomarkers of PDE5 inhibitor therapy for TCVI. Sildenafil is a potential therapy for TCVI.
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Ann Clin Transl Neurol · Feb 2018
GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.
We describe a consanguineous family in which two brothers were affected by childhood onset spastic ataxia with optic atrophy and loss of motor and language skills. Through a combination of homozygosity mapping and whole-genome sequencing, we identified a homozygous copy number variant in GLS as the cause. ⋯ GLS encodes the brain- and kidney-specific enzyme glutaminase, which hydrolyzes glutamine for the production of glutamate, the most abundant central nervous system neurotransmitter. This is the first report implicating GLS loss of function in human disease.