Initial neuropsychological impairments in patients with the E46K mutation of the α-synuclein gene (PARK 1)

Abstract Introduction In 2004 we described the mutation E46K of the α-Synuclein (SNCA). These patients show Parkinson's disease with early cognitive impairment, sleep disorders and autonomic dysfunction. Objective The main objective is to identify early neuropsychological impairments in patient...

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Bibliographic Details
Published in:Journal of the neurological sciences 2011-11, Vol.310 (1), p.86-89
Main Authors: Somme, Johanne H, Gomez-Esteban, Juan C, Molano, Ana, Tijero, Beatriz, Lezcano, Elena, Zarranz, Juan J
Format: Article
Language:English
Subjects:
Aged
Aged, 80 and over
Alpha-synuclein
alpha-Synuclein - genetics
Cognition Disorders - etiology
Cognition Disorders - genetics
Dementia
Disease Progression
Familial
Family Health
Female
Glutamine - genetics
Hallucinations
Humans
Longitudinal Studies
Lysine - genetics
Male
Mild cognitive impairment
Mutation - genetics
Neurology
Neuropsychological Tests
Neuropsychology
PARK1
Parkinson Disease - complications
Parkinson Disease - genetics
Parkinson's disease
Psychiatric Status Rating Scales
Time Factors
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Summary:Abstract Introduction In 2004 we described the mutation E46K of the α-Synuclein (SNCA). These patients show Parkinson's disease with early cognitive impairment, sleep disorders and autonomic dysfunction. Objective The main objective is to identify early neuropsychological impairments in patients with the E46K mutation. Methods This is a longitudinal neuropsychological study of 4 of the 5 surviving patients with E46K mutation by semi-structured interviews and the following scales: Mattis Dementia Rating Scale (MDRS), semantic and phonemic verbal fluency tests (VFT), Benton Visual Retention Test (BVRT), Stroop Test (STROOP), Clock drawing test (CLOCK), WAIS III Letter and Number sequencing (WAIS III LN), Rey Auditory Verbal Learning Test (RAVLT) and Benton Judgement of Line Orientation Test (BJLOT). Motor status was assessed by UPDRS III. Results Motor status : Patients 1, 2 and 3 present mild to moderate Parkinson disease of 7, 8 and 3 years of evolution respectively, patient 4 is asymptomatic. Cognitive status : Patient 2 and 3 both refer cognitive decline while patient 1 presents no cognitive complaints, however they all show a progressive cognitive decline across various tasks. Tests of frontal function showed the first alterations in all patients but fluctuate. The first cognitive complaints coincide with deterioration of tasks of posterior cortical basis. Patient 4 presents a normal performance on all tests. Patient 1, 2 and 3 have all presented visual hallucinations. Conclusions A fluctuating frontal impairment is observed at early stages. Prominent visuospatial alterations and visual hallucinations suggest that posterior cortical dysfunction might be a distinct early feature of the cognitive impairment observed in patients with this mutation.
ISSN:0022-510X
1878-5883
DOI:10.1016/j.jns.2011.07.047