Abstract:
OBJECTIVE:Amyotrophic lateral sclerosis type 8 (ALS8) is a familial form of motor neuron disease, with predominance of lower motor neuron degeneration, and is caused by mutation of the vesicle-associated membrane protein-associated protein B (VAPB). We aimed to compare the cognitive profile of patients with ALS8 and healthy controls (HC), and to screen for behavioural features in ALS8 patients. METHODS:The sample was composed of ALS8 patients (n = 22; 14 men; median age 48 years old; median disease duration 6.5 years) and HC (n = 33; 19 men; median age 48 years old). Patients and HC were matched for sex, age and educational level. Participants underwent behavioural, psychiatric (Hospital Anxiety and Depression Scale and Cambridge Behavioural Inventory-Revised) and neuropsychological assessments, focused on executive functions, visual memory, and facial emotion recognition. RESULTS:ALS8 patients exhibited subtle deficits in executive functions. Compared to controls, ALS8 patients were significantly impaired in measures of flexibility and inhibitory control. ALS8 patients and HC did not differ in scores of facial emotion recognition. There was clinically relevant anxiety and depression in 36% and 27% of ALS8 patients, respectively. Behavioural disorders such as stereotypic and motor behaviours were present in more than 30% of patients. CONCLUSIONS:ALS8 patients present mild executive dysfunction and behavioural changes such as mood disorders, apathy and stereotypic behaviour. Our findings suggest that ALS8 is not a pure motor disorder and it is associated with subtle cognitive and behavioural impairments.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
de Alcântara C,Cruzeiro MM,França MC Jr,Camargos ST,de Souza LCdoi
10.1007/s00415-019-09369-ysubject
Has Abstractpub_date
2019-08-01 00:00:00pages
1980-1987issue
8eissn
0340-5354issn
1432-1459pii
10.1007/s00415-019-09369-yjournal_volume
266pub_type
杂志文章abstract::We investigated the efficacy of botulinum toxin A (BtxA) therapy in patients with atypical parkinsonian disorders (APD) exhibiting different types of disabling focal dystonia unresponsive to oral drug therapy. Eight patients with functionally disabling focal dystonia out of a series of 60 consecutive patients with APD...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
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pub_type: 杂志文章
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pub_type: 杂志文章,评审
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pub_type: 信件
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pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:2012-02-01 00:00:00
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pub_type: 杂志文章
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