Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review

Bonnot, Olivier; Klünemann, Hans H.; Sedel, Frédéric; Tordjman, Sylvie; Cohen, David; Walterfang, Mark

doi:10.1186/1750-1172-9-65

Cited by 73 publications

(43 citation statements)

References 137 publications

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“…Psychiatric symptoms can be prominent 12-15 although affected adults without neurological manifestations have also been reported 16-18 . The full phenotypic spectrum of adult-onset NPC disease has yet to be delineated.…”

Section: Introductionmentioning

confidence: 99%

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Wassif

Cross

Iben

et al. 2016

Genetics in Medicine

181

138

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PurposeNiemann-Pick disease, type C (NPC) is a recessive, neurodegenerative, lysosomal storage disease caused by mutations in either NPC1 or NPC2. The diagnosis is difficult and frequently delayed. Ascertainment is likely incomplete due to both these factors and that the full phenotypic spectrum may not have been fully delineated. Given the recent development of a blood-based diagnostic test and development of potential therapies, it is important to understand the incidence of NPC and to define at risk patient populations.MethodWe evaluated data from four large massively parallel exome sequencing data sets. Variant sequences were identified and classified as pathogenic or non-pathogenic based on a combination of literature review and bioinformatic analysis. This methodology provided an unbiased approach to determining the allele frequency.ResultsOur data suggests an incidence rate for NPC1 and NPC2 of 1/92,104 and 1/2,858,998, respectively. However, evaluation of common NPC1 variants, suggests that there may be a late-onset NPC1phenotype with a markedly higher incidence on the order of 1/20,000-39,000.ConclusionsWe determined a combined incidence of classical NPC of 1/89,229 or 1.12 affected patients per 100,000 conceptions, but predict incomplete ascertainment of a late-onset phenotype of NPC1. This finding strongly supports the need for increased screening of potential patients.

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Section: Introductionmentioning

confidence: 99%

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Wassif

Cross

Iben

et al. 2016

Genetics in Medicine

181

138

View full text Add to dashboard Cite

show abstract

“…Psychiatric signs and symptoms are most frequent in patients with adolescent/adult-onset disease, and often feature psychosis including paranoid delusions, auditory or visual hallucinations, and interpretative thoughts [5,[16][17][18] . Depressive syndrome, behavioral problems with aggressiveness and social isolation have also been described [19,20] .…”

Section: Introductionmentioning

confidence: 99%

Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C

Chamova

Kirov²,

Guergueltcheva³

et al. 2016

Eur Neurol

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Background: Niemann-Pick disease type C (NP-C) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in either the NPC1 (in 95% of cases) or the NPC2 gene. Methods: In a prospective, observational cohort study, all Bulgarian patients diagnosed with NP-C to date (since 2010) underwent detailed neurological examination and neuro-ophthalmological, neuropsychological and psychiatric evaluations, as well as brain MRI, abdominal ultrasound and hearing tests. Plasma chitotriosidase was also measured, when possible. Results: The Bulgarian national NP-C cohort comprised 11 patients who were diagnosed based on molecular genetic analysis (n = 9) and/or filipin staining of skin fibroblasts (n = 3). The mean age at onset was 14.4 (SD 8.3). Diagnoses were achieved 1-23 years after initial clinical presentation. All patients who underwent genetic mutation analysis were compound heterozygotes: a total of 12 NPC1 mutations were recorded, 5 of which were novel. Two patients had late-infantile onset, 4 had juvenile onset, and the remaining 5 had the adult-onset form of NP-C. Initial symptoms were neurological in 9 patients, visceral in one, and predominantly psychiatric in another. Vertical gaze palsy was present in all patients. Dysarthria, pyramidal involvement, cognitive impairment, and organomegaly with varied severity were observed in 10 of them. Ataxia was present in 9 and dystonia in 7. Four patients had epileptic seizures, and gelastic cataplexy was reported in 5. Brain MRI revealed hyperintense white matter lesions in 5 patients and cortical and/or cerebellar atrophy in 4. Conclusions: This Bulgarian NP-C cohort showed wide variability in terms of NPC1 mutations and predominant forms of neurological involvement. Diagnosing NP-C is challenging, and it was often delayed in this cohort due to the heterogeneity of patients' clinical signs and symptoms.

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“…This may be explained by cultural factors or more family support particularly among female patients. A recent systematic review has reported difficulty in assigning causality association of metabolic disorders with psychiatric illnesses in adults (Bonnot et al 2014). …”

Section: Discussionmentioning

confidence: 99%

Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar

et al. 2014

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Background: Classical homocystinuria due to cystathionine b-synthase (CBS) deficiency (OMIM 236200) is a recessively inherited condition caused by mutations in the CBS gene. The founder mutation p.R336C accounts for almost all CBS deficiency in Qatar, affecting approximately 1 in 1,800 births, making it the most prevalent monogenic disease among the Qatari population. Untreated patients can have severe intellectual disability (ID), devastating multisystem complications and premature death. Current treatment is based on pharmacology therapy and life-long methionine-restricted diet, which is difficult to maintain particularly in late diagnosed individuals. Data on the neurodevelopmental and psychological impact of the disease on outcomes among Qatari patients are generally lacking and have not been studied.Objectives: To examine the cognitive, educational and psychological outcomes of classical homocystinuria on Qatari patients.Subjects and Methods: Thirty-two cases with classical homocystinuria and 25 sibling controls were recruited to evaluate the neurodevelopmental and cognitive outcomes. We reviewed the subjects' medical record and collected pertinent clinical and educational data from parents. Stanford-Binet Intelligence Test (Arabic translation -4th ed.) was used for cognitive (IQ) testing.

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Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review

Cited by 73 publications

References 137 publications

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C

Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar

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