ArticleJournal of neurology2014
Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?
Article in Journal of neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Neuropsychological assessment in Niemann-Pick disease type C: a systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Pooled it
- Attenuated afferent inhibition correlated with impaired gait performance in Parkinson's disease patients with freezing of gait.Frontiers in aging neuroscience · 2024Article
- A comprehensive review of transcranial magnetic stimulation in secondary dementia.Frontiers in aging neuroscience · 2022Review
- Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the "Variant" Biochemical Phenotype of Niemann-Pick Type C1 Disease.International journal of molecular sciences · 2021Article
- Different cortical excitability profiles in hereditary brain iron and copper accumulation.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Novel compound heterozygous mutation inJournal of genetics · 2020Article
- In vivo evidence of cortical amyloid deposition in the adult form of Niemann Pick type C.Heliyon · 2019Article
- Clinical and neurophysiological characteristics of heterozygousJIMD reports · 2019Article
- Fast Intracortical Sensory-Motor Integration: A Window Into the Pathophysiology of Parkinson's Disease.Frontiers in human neuroscience · 2019Article
- Miglustat in Niemann-Pick disease type C patients: a review.Orphanet journal of rare diseases · 2018Review
- Distinguishing neurocognitive deficits in adult patients with NP-C from early onset Alzheimer's dementia.Orphanet journal of rare diseases · 2018Article
- Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2018Article
- Recent neuroimaging, neurophysiological, and neuropathological advances for the understanding of NPC.F1000Research · 2018Review
- Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C.JIMD reports · 2017Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Adult patients with Niemann-Pick disease type C (NPC) usually develop cognitive impairment progressing to dementia, whose pathophysiology remains still unclear. Noteworthy parallels exist in cognitive impairment and cellular pathology of NPC and Alzheimer's disease (AD). In particular, alterations of cholinergic system, which represent one of the pathological hallmarks and contribute to cognitive deterioration in AD, have recently been demonstrated in a human brain autopsy and in an experimental model of NPC. This finding raised the issue that central cholinergic circuits dysfunction may contribute to pathophysiology of cognitive impairment in NPC as well, and prompted us to evaluate the cholinergic functional involvement in NPC patients by applying a neurophysiologic technique, named short-latency afferent inhibition (SAI). We describe clinical, biochemical, molecular and neuropsychological features, and SAI findings in three patients affected by NPC. Diagnosis of NPC was assessed by molecular analysis of the NPC1 gene in all patients. In two of them, biochemical analysis of intracellular accumulation of unesterified cholesterol was also performed. The main clinical features were cerebellar ataxia, vertical supranuclear gaze palsy and a variable degree of cognitive impairment ranging from only memory impairment to severe dementia. Electrophysiological evaluation revealed a reduced SAI in all three patients. Our SAI findings provide evidence of cholinergic dysfunction in patients with the adult form of NPC, supporting that cholinergic alterations may play a role in cognitive impairment in NPC, and strengthening the similarities between NPC and AD.
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