Structural signature in SCA1: clinical correlates, determinants and natural history

AbstractSpinocerebellar ataxia type 1 is an autosomal dominant disorder caused by a CAG repeat expansion inATXN1, characterized by progressive cerebellar and extracerebellar symptoms. MRI-based studies in SCA1 focused in the cerebellum and connections, but there are few data about supratentorial/spinal damage and its clinical relevance. We have thus designed this multimodal MRI study to uncover the structural signature of SCA1. To accomplish that, a group of 33 patients and 33 age-and gender-matched healthy controls underwent MRI on a 3T scanner. All patients underwent a comprehensive neurological and neuropsychological evaluation. We correlated the structural findings with the clinical features of the disease. In addition, we evaluated the disease progression looking at differences in SCA1 subgroups defined by disease duration. Ataxia and pyramidal signs were the main symptoms. Neuropsychological evaluation disclosed cognitive impairment in 53% with predominant frontotemporal dysfunction. Gray matter analysis unfolded cortical thinning of primary and associative motor areas with more restricted impairment of deep structures. Deep gray matter atrophy was associated with motor handicap and poor cognition skills. White matter integrity loss was diffuse in the brainstem but restricted in supratentorial structures. Cerebellar cortical thinning was found in multiple areas and correlated not only with motor disability but also with verbal fluency. Spinal cord atrophy correlated wit...
Source: Journal of Neurology - Category: Neurology Source Type: research

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In conclusion, elevated brain amyloid was associated with family history and APOE ε4 allele but not with multiple other previously reported risk factors for AD. Elevated amyloid was associated with lower test performance results and increased reports of subtle recent declines in daily cognitive function. These results support the hypothesis that elevated amyloid represents an early stage in the Alzheimer's continuum. Blood Metabolites as a Marker of Frailty Frailty in older people is usually diagnosed in a sympt...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Fight Aging! publishes news and commentary relevant to the goal of ending all age-related disease, to be achieved by bringing the mechanisms of aging under the control of modern medicine. This weekly newsletter is sent to thousands of interested subscribers. To subscribe or unsubscribe from the newsletter, please visit: Longevity Industry Consulting Services Reason, the founder of Fight Aging! and Repair Biotechnologies, offers strategic consulting services to investors, entrepreneurs, and others interested in the longevity industry and its complexities. To find out m...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
The J.P. Morgan Healthcare conference runs every year in San Francisco, a big draw for the biotech industry, and many organizations take the opportunity to host events at the same time. Among these, the SENS Research Foundation has for the past few years hosted a pitch day in which biotech companies in the longevity industry, largely startups, present to that portion of the Bay Area investor community interested in funding the treatment of aging as a medical condition. I was there to present on progress at Repair Biotechnologies, and took some notes on the other companies as they talked about their work. Kimera Labs ...
Source: Fight Aging! - Category: Research Authors: Tags: Investment Source Type: blogs
Conclusion: Bilateral cerebral peduncle infarction may be related to cerebral perfusion insufficiency caused by the stenosis or occlusion of vertebrobasilar artery and its branches. The main clinical manifestations are locked-in syndrome and persistent vegetative state. The specific imaging feature of “Mickey Mouse ear”-like infarction is associated with a poor prognosis.
Source: Frontiers in Neurology - Category: Neurology Source Type: research
This article has an associated First Person interview with the joint first authors of the paper.
Source: DMM Disease Models and Mechanisms - Category: Biomedical Science Authors: Tags: Metabolic Disorders RESEARCH ARTICLE Source Type: research
Grand Total EEG Score Can Differentiate Parkinson's Disease From Parkinson-Related Disorders Ela Austria Barcelon1,2*, Takahiko Mukaino1, Jun Yokoyama1, Taira Uehara2, Katsuya Ogata2, Jun-ichi Kira1 and Shozo Tobimatsu2 1Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan2Department of Clinical Neurophysiology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan Background: Semi-quantitative electroencephalogram (EEG) analysis is easy to perform and has been used to differentiate dementias, as well ...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Conclusion and Future Directions The ECM model has produced a wealth of information on CM pathogenesis in mice with the aim to find an adjunctive therapy for HCM but its validity has been questioned. However, several investigators have provided a critical and evidence-based defense of this model (17, 128–131) and from knowledge gained from it, numerous laboratories have tested preclinical therapeutic interventions. Many have demonstrated efficacy at blocking the development of ECM but disappointingly, in a majority of cases, this was only found when administered before or early post infection and prior to the onset ...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
ConclusionsDifferent patterns of sleep disturbances are observed in HD patients: insomnia, difficulties in falling asleep, frequent nocturnal awakenings, and excessive daytime sleepiness are the most common sleep problems reported by patients with HD. In several HD studies, specific changes in sleep architecture and in circadian melatonin secretion were identified in laboratory testing.Sleep disorders in HD have diverse and complex determinants, the most significant of which includes damage to brain areas that are responsible for the proper sleep pattern and circadian rhythm regulation. Sleep and circadian rhythm disorders...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
ConclusionsPerampanel was well tolerated and efficacious in one‐fifth of our patients. We observed challenging behaviour, ataxia and sedation in a relevant number of patients with ID under perampanel treatment. Further studies are warranted to explore the tolerability of perampanel in patients with ID.
Source: Acta Neurologica Scandinavica - Category: Neurology Authors: Tags: ORIGINAL ARTICLE Source Type: research
Conclusions:Exome sequencing can provide definitive diagnosis in cases presenting with rare genetic disease and should be considered in the routine genetic evaluation of the patients presenting with adult- and/or sporadic-onset progressive cerebellar ataxia for which no other cause can be identified.Study Supported by:This study was supported by NIH R01-NS082094 (BLF).Disclosure: Dr. Arac has nothing to disclose. Dr. Olney has nothing to disclose. Dr. Fogel has nothing to disclose.
Source: Neurology - Category: Neurology Authors: Tags: General Neurology: The Eyes Have It and White Matter Matters Source Type: research
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