Amyotrophic lateral sclerosis & frontotemporal degeneration
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Amyotroph Lateral Scler Frontotemporal Degener · Aug 2018
Phenotypic and genotypic studies of ALS cases in ALS-SMA families.
Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are the most frequent motor neuron disorders in adulthood and infancy, respectively. There is a growing literature supporting common pathophysiological patterns between those disorders. One important clinical issue for that is the co-occurrence of both diseases within a family. ⋯ While the high proportion of familial history of ALS cases in these ALS-SMA pedigrees could have suggested that these familial clusters of the two most frequent MND rely on a genetic background, we failed to exclude that this occurred by chance.
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Amyotroph Lateral Scler Frontotemporal Degener · May 2018
A retrospective investigation of the relationship between baseline covariates and rate of ALSFRS-R decline in ALS clinical trials.
The revised ALS functional rating scale (ALSFRS-R) is a longitudinal measure of global function commonly used to assess progression of amyotrophic lateral sclerosis (ALS), and as an endpoint in ALS clinical trials. Understanding how baseline covariates affect the rate of functional decline in ALS offers valuable information to clinical trialists. We used a mixed modeling approach in a retrospective study of the pooled resource open-Access ALS clinical trials database to elucidate the associations between baseline covariates and the rate of ALSFRS-R decline over time. ⋯ Selective inclusion of 'age at disease onset' and 'time since disease onset' as covariates provided the best tradeoff between model fit and model precision. The effect of bulbar onset on rate of disease progression was primarily due to accelerated decline in the bulbar subscale of the ALSFRS-R. These findings, which are novel in the clinical trial time frame, contribute to the understanding of disease trajectory in ALS and can be used to guide future design and analysis of clinical trials.
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Amyotroph Lateral Scler Frontotemporal Degener · Feb 2018
Investigating the neuroanatomical substrate of pathological laughing and crying in amyotrophic lateral sclerosis with multimodal neuroimaging techniques.
Pathological laughing and crying (PLC) is common in several neurological and psychiatric diseases and is associated with a distributed network involving the frontal cortex, the brainstem and cortico-pontine-cerebellar circuits. By applying multimodal neuroimaging approach, we examined the neuroanatomical substrate of PLC in a sample of patients with amyotrophic lateral sclerosis (ALS). ⋯ PLC in ALS is driven by both GM and WM abnormalities which highlight the role of circuits rather than isolated centers in the emergence of this condition. ALS is suggested as a useful natural experimental model to study PLC.
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Amyotroph Lateral Scler Frontotemporal Degener · Feb 2018
Experience with telemedicine in a multi-disciplinary ALS clinic.
Telemedicine using video televisits is emerging as a means to provide care directly to patients. Here we report our experience using video televisits to provide follow-up care as a part of the Massachusetts General Hospital (MGH) Telemedicine for People with ALS (TelePALS) initiative. ⋯ Video televisits are feasible and can be a useful tool to supplement traditional clinic-based multidisciplinary ALS care.
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Amyotroph Lateral Scler Frontotemporal Degener · Feb 2018
A spatial analysis of amyotrophic lateral sclerosis (ALS) cases in the United States and their proximity to multidisciplinary ALS clinics, 2013.
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease that typically results in death within 2-5 years of initial symptom onset. Multidisciplinary ALS clinics (MDCs) have been established to provide specialty care to people living with the disease. ⋯ The high percentage of those living more than 50 miles from the nearest specialized clinic underscores one of the many challenges of ALS. Having better access to care, whether at MDCs or through other modalities, is likely key to increasing survivability and obtaining appropriate end-of-life treatment and support for people with ALS.