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Distinguishing neurocognitive deficits in adult patients with NP-C from early onset Alzheimer's dementia.
- Source :
-
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2018 Jun 05; Vol. 13 (1), pp. 91. Date of Electronic Publication: 2018 Jun 05. - Publication Year :
- 2018
-
Abstract
- Background: Niemann-Pick disease type C (NP-C) is a rare, progressive neurodegenerative disease caused by mutations in the NPC1 or the NPC2 gene. Neurocognitive deficits are common in NP-C, particularly in patients with the adolescent/adult-onset form. As a disease-specific therapy is available, it is important to distinguish clinically between the cognitive profiles in NP-C and primary dementia (e.g., early Alzheimer's disease; eAD).<br />Methods: In a prospective observational study, we directly compared the neurocognitive profiles of patients with confirmed NP-C (n = 7) and eAD (n = 15). All patients underwent neurocognitive assessment using dementia screening tests (mini-mental status examination [MMSE] and frontal assessment battery [FAB]) and an extensive battery of tests assessing verbal memory, visuoconstructive abilities, visual memory, executive functions and verbal fluency.<br />Results: Overall cognitive impairment (MMSE) was significantly greater in eAD vs. NP-C (p = 0.010). The frequency of patients classified as cognitively 'impaired' was also significantly greater in eAD vs. NP-C (p = 0.025). Patients with NP-C showed relatively preserved verbal memory, but frequent impairment in visual memory, visuoconstruction, executive functions and in particular, verbal fluency. In the eAD group, a wider profile of more frequent and more severe neurocognitive deficits was seen, primarily featuring severe verbal and visual memory deficits along with major executive impairment. Delayed verbal memory recall was a particularly strong distinguishing factor between the two groups.<br />Conclusion: A combination of detailed yet easy-to-apply neurocognitive tests assessing verbal memory, executive functions and verbal fluency may help distinguish NP-C cases from those with primary dementia due to eAD.
- Subjects :
- Adult
Age of Onset
Alzheimer Disease diagnosis
Alzheimer Disease physiopathology
Cognition Disorders diagnosis
Cognition Disorders physiopathology
Cognitive Dysfunction physiopathology
Female
Humans
Male
Middle Aged
Neuropsychological Tests
Niemann-Pick Disease, Type C physiopathology
Prospective Studies
Cognitive Dysfunction diagnosis
Niemann-Pick Disease, Type C diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1750-1172
- Volume :
- 13
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Orphanet journal of rare diseases
- Publication Type :
- Academic Journal
- Accession number :
- 29871644
- Full Text :
- https://doi.org/10.1186/s13023-018-0833-3