Late adult-onset Niemann Pick type C (NPC): An “atypical” typical presentation at the age of 62

Sousa, Mário; Maamari, Basel; Bremova-Ertl, Tatiana; Nuoffer, Jean‐Marc; Wiest, Roland; Amstutz, Deborah; Krack, Paul; Bartholdi, Deborah; Tinkhauser, Gerd

doi:10.1016/j.parkreldis.2023.105460

Cited by 2 publications

(1 citation statement)

References 14 publications

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“…In comparison, the juvenile and adolescent forms of NPC progress more slowly and present with cerebellar ataxia, dysarthrophonia, dystonia, cognitive decline, psychiatric involvement, vertical supranuclear saccade (VSSP), gaze palsy (VSGP), and epilepsy [ 17 ]. VSSP and VSGP are commonly present in infantile cases and serve as a diagnostic clue [ 80 , 81 , 82 ]. Children with mutations in the NPC2 gene often develop respiratory insufficiency due to pulmonary alveolar lipoproteins.…”

Section: Lysosomal Storage Diseasesmentioning

confidence: 99%

Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options

Bremova-Ertl,

Hofmann,

Stucki

et al. 2023

Cells

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A number of hereditary ataxias are caused by inborn errors of metabolism (IEM), most of which are highly heterogeneous in their clinical presentation. Prompt diagnosis is important because disease-specific therapies may be available. In this review, we offer a comprehensive overview of metabolic ataxias summarized by disease, highlighting novel clinical trials and emerging therapies with a particular emphasis on first-in-human gene therapies. We present disease-specific treatments if they exist and review the current evidence for symptomatic treatments of these highly heterogeneous diseases (where cerebellar ataxia is part of their phenotype) that aim to improve the disease burden and enhance quality of life. In general, a multimodal and holistic approach to the treatment of cerebellar ataxia, irrespective of etiology, is necessary to offer the best medical care. Physical therapy and speech and occupational therapy are obligatory. Genetic counseling is essential for making informed decisions about family planning.

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Section: Lysosomal Storage Diseasesmentioning

confidence: 99%

Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options

Bremova-Ertl,

Hofmann,

Stucki

et al. 2023

Cells

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Swallowing characterization of adult-onset Niemann-Pick, type C1 patients

Solomon,

Muñoz,

Sinaii

et al. 2024

Orphanet J Rare Dis

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Background Niemann-Pick disease, type C1 (NPC1) is a rare lysosomal disorder with progressive neurological manifestations, historically recognized as a pediatric disease. However, awareness of the adult-onset (AO) subtype is increasing, often with non-specific symptoms leading to delayed and misdiagnosis. Dysphagia, commonly recognized as a clinical morbidity in NPC1, raises concerns for swallowing safety and aspiration risk. This study aims to characterize swallowing function in AO NPC1, addressing the gap in understanding and clinical management. Methods Fourteen AO NPC1 individuals in a prospective natural history study (NCT00344331) underwent comprehensive assessments, including history and physical examinations utilizing the NPC1 severity rating scale, videofluoroscopic swallowing studies with summary interpretive analysis, and cerebrospinal fluid (CSF) collection for biomarker evaluation at baseline visit. Descriptive statistics and multivariate statistical modeling were employed to analyze NPC1 disease covariates, along with the American Speech-Language-Hearing Association National Outcome Measure (ASHA-NOMS) and the NIH Penetration Aspiration Scale (NIH-PAS). Results Our cohort, comprised of 14 predominately female (n = 11, 78.6%) individuals, had an average age of 43.1 ± 16.7 years at the initial visit. Overall, our AO patients were able to swallow independently with no/minimal cueing, with 6 (43%) avoiding specific food items or requiring more time. Upon risk analysis of aspiration, the cohort demonstrated no obvious aspiration risk or laryngeal aspiration in 8 (57%), minimal risk with intermittent laryngeal penetration and retrograde excursion in 5(36%), and moderate risk (7%) in only one. Dietary modifications were recommended in 7 (50%), particularly for liquid viscosities (n = 6, 43%) rather than solids (n = 3, 21%). No significant correlations were identified between swallowing outcomes and NPC1-related parameters or CSF biomarkers. Conclusion Despite the heterogeneity in NPC1 presentation, the AO cohort displayed functional swallowing abilities with low aspiration risk with some participants still requiring some level of dietary modifications. This study emphasizes the importance of regular swallowing evaluations and management in AO NPC1 to address potential morbidities associated with dysphagia such as aspiration. These findings provide clinical recommendations for the assessment and management of the AO cohort, contributing to improved care for these individuals.

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Late adult-onset Niemann Pick type C (NPC): An “atypical” typical presentation at the age of 62

Cited by 2 publications

References 14 publications

Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options

Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options

Swallowing characterization of adult-onset Niemann-Pick, type C1 patients

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