scholarly journals Easily Misdiagnosed cblC Deficiency in Adolescents: the Clinical and Metabolic Studies

2022 ◽  
Author(s):  
Zhehui Chen ◽  
Hui Dong ◽  
Yupeng Liu ◽  
Ruxuan He ◽  
Jinqing Song ◽  
...  
Keyword(s):  
Psychotic Disorders ◽  
Late Onset ◽  
Control Strategies ◽  
Neuropsychiatric Symptoms ◽  
Organ Damage ◽  
Methylmalonic Aciduria ◽  
Spastic Paraplegia ◽  
Aged Patients ◽  
Metabolic Studies ◽  
Neuropsychiatric Diseases

Abstract Purpose: Adolescents are easily attacked by potential inherited metabolic disorders. cblC deficiency is the most common type of methylmalonic aciduria in China. The late-onset patients present with varied non-specific symptoms and usually being misdiagnosed. The purpose of this study is to investigate the clinical features of patients with adolescence-onset cblC deficiency and explore the prevention and control strategies. Methods: Fifty-seven patients (34 males and 23 females) with adolescence-onset cblC deficiency were admitted in our clinic from 2002 to September 2021. The diagnosis was confirmed by metabolic and genetic tests. The clinical and biochemical features, disease triggers, outcome and genotypes-phenotypes correlation were examined.Results: The onset ages ranged from 10 to 25 years old (median age was 12 years). 16 cases (28.0%) presented with symptoms after infection or sports training. 46 patients (80.7%) had neuropsychiatric diseases. 14 patients (24.6%) displayed cardiovascular diseases. Five cases (8.9%) showed pulmonary hypertension. Renal damage was observed in seven cases (12.3%). 23 mutations were identified from the MMACHC gene of 57 patients. 37 patients demonstrated c.482G>A (64.9%) and 16 cases had c.609G>A (26.3%). Among 13 patients that exhibited spastic paraplegia as a main manifestation, 10 patients had c.482G>A (76.9%). Five patients presented with psychotic disorders and spastic paraplegia with c.482G>A. All patients improved after metabolic treatment with cobalamin, L-carnitine, and betaine. 30 school-aged patients returned to school. Two patients were married and had healthy babies.Conclusion: Patients with adolescence-onset cblC deficiency presented with varied neuropsychiatric symptoms or multiple organ damage. Metabolic studies and individualized treatment are keys to improve the outcome of the patients.

Psychosis and dementia: risk factor, prodrome, or cause?

2017 ◽  
Vol 30 (2) ◽  
pp. 209-219 ◽  
Author(s):  
Corinne E. Fischer ◽  
Luis Agüera-Ortiz
Keyword(s):  
Psychotic Disorders ◽  
Clinical Course ◽  
Late Onset ◽  
Early Recognition ◽  
Neuropsychiatric Symptoms ◽  
Psychotic Symptoms ◽  
Functional Psychosis ◽  
Dementia Risk ◽  
Treatment Considerations ◽  
The Impact

ABSTRACTBackground:Progression of dementia is often associated with the emergence of neuropsychiatric symptoms (NPS), though there is recent evidence that NPS may occur in prodromal dementia (PrD) and impact clinical course. Mood and anxiety symptoms are the NPS that tend to occur most frequently in PrD and thus have been most extensively studied. Comparatively, there has been little focus on psychotic symptoms in PrD.Methods:The authors review the existing literature on psychosis in PrD, including the functional psychosis of early and late onset, with a focus on epidemiology, phenomenology, and clinical course and treatment considerations.Results:Patients with psychotic disorders at baseline such as schizophrenia may be more at risk for developing dementia over time, although this is not completely clear. Psychotic symptoms are likely more common in PrD than previously understood based on factor analysis studies, although they are much more common in established dementia. Variability in findings may reflect the heterogeneous nature of PrD studies to date and the lack of inclusion of patients with late onset psychosis in most clinical studies. The presence of psychosis in patients with PrD may be associated with a worse prognosis in terms of mortality and conversion to dementia.Conclusions:Research to date suggests that psychosis in PrD may be more common than previously thought and impact clinical course negatively. Future studies incorporating patients with late onset psychotic disorders, and focusing on the impact of early recognition and treatment, are required to more fully understand the role of psychosis in PrD.

scholarly journals The Incidence of Nonaffective, Nonorganic Psychotic Disorders in Older People: A Population-based Cohort Study of 3 Million People in Sweden

2018 ◽  
Vol 45 (5) ◽  
pp. 1152-1160 ◽  
Author(s):  
Jean Stafford ◽  
Robert Howard ◽  
Christina Dalman ◽  
James B Kirkbride
Keyword(s):  
Psychotic Disorders ◽  
Late Onset ◽  
Child Death ◽  
Population Based ◽  
Ratio Test ◽  
Limited Data ◽  
Region Of Origin ◽  
Traumatic Life Events ◽  
Potential Risk Factors ◽  
Recorded Diagnosis

Abstract Background There are limited data on the epidemiology of very late-onset schizophrenia-like psychosis (VLOSLP) and how this relates to potential risk factors including migration, sensory impairment, traumatic life events, and social isolation. Methods We followed up a cohort of 3 007 378 people living in Sweden, born 1920–1949, from their 60th birthday (earliest: January 15, 1980) until December 30 2011, emigration, death, or first recorded diagnosis of nonaffective psychosis. We examined VLOSLP incidence by age, sex, region of origin, income, partner or child death, birth period, and sensory impairments. Results We identified 14 977 cases and an overall incidence of 37.7 per 100 000 person-years at-risk (95% CI = 37.1–38.3), with evidence that rates increased more sharply with age for women (likelihood ratio test: χ2(6) = 31.56, P < .001). After adjustment for confounders, rates of VLOSLP were higher among migrants from Africa (hazard ratio [HR] = 2.0, 95% CI = 1.4–2.7), North America (HR = 1.4, 95% CI = 1.0–1.9, P = .04), Europe (HR = 1.3, 95% CI = 1.2–1.4), Russian-Baltic regions (HR = 1.6, 95% CI = 1.4–1.9), and Finland (HR = 1.6, 95% CI = 1.5–1.7). VLOSLP risk was highest for those in the lowest income quartile (HR = 3.1, 95% CI = 2.9–3.3). Rates were raised in those whose partner died 2 years before cohort exit (HR = 1.1, 95% CI = 1.0–1.3, P = .02) or whose child died in infancy (HR = 1.2, 95% CI = 1.0–1.4, P = .05), those without a partner (HR = 1.9, 95% CI = 1.8–1.9) or children (HR = 2.4, 95% CI = 2.3–2.5), and those whose child had a psychotic disorder (HR = 2.4, 95% CI = 2.2–2.6). Interpretation We identified a substantial burden of psychosis incidence in old age, with a higher preponderance in women and most migrant groups. Life course exposure to environmental factors including markers of deprivation, isolation, and adversity were associated with VLOSLP risk.

scholarly journals End-organ damage in hypertensive transgenic Ren-2 rats: influence of early and late endothelin receptor blockade

2009 ◽  
pp. S69-S78
Author(s):  
Z Vernerová ◽  
P Kujal ◽  
HJ Kramer ◽  
A Bäcker ◽  
L Červenka ◽  
...  
Keyword(s):  
Survival Rate ◽  
Late Onset ◽  
Severe Hypertension ◽  
Organ Damage ◽  
Renal Parenchyma ◽  
Suitable Model ◽  
Receptor Blockade ◽  
End Organ Damage ◽  
Selective Blockade ◽  
Eta Receptor

The rat strain transgenic for the murine Ren-2 renin gene (TGR) is defined as a monogenic model of angiotensin II-dependent hypertension with endogenous activation of the renin-angiotensin system. Homozygous males TGR develop malignant hypertension with a strong salt-sensitive component. These animals show severe hypertension, proteinuria and high mortality. Morphological changes of renal parenchyma correspond to chronic ischemic glomerular changes. Heterozygous TGR develop only mild hypertension and thus provide a more suitable model of hypertension regarding to clinical studies. Within the renal parenchyma, secondary focal segmental glomerulosclerosis (FSGS) predominates. High-salt diet in heterozygous animals induces transition from benign to malignant phase of hypertension. In this case, ischemic glomerular changes are superimposed on preexisting secondary FSGS. In the regression model of hypertension (late-onset treatment) the effect of salt intake is attenuated. In homozygous TGR, early selective ETA receptor blockade decreased blood pressure and ameliorated end-organ damage. Late selective ETA receptor blockade reduced podocyte injury despite final severe hypertension. Survival rate was markedly improved in both regimens with ETA selective blockade, while there was only partial improvement with early non-selective blockade. Both bosentan and atrasentan decreased ET-1 levels in both regimens. In heterozygous TGR, early and late ETA treatment substantially while ETA/ETB treatment partially improved survival rate. Significant effect on BP was found with early and late ETA blockade, while ETA/ETB blockade had no effect. Bosentan and atrasentan similarly decreased ET-1 levels on both regimens. In conclusion, selective ETA receptor blockade is superior to nonselective ETA/ETB receptor blockade in attenuating hypertension and end-organ damage. Its effect is more pronounced when applied early in the life.

scholarly journals Quality of Life in People with Young-Onset Alzheimer’s Dementia and Frontotemporal Dementia

2018 ◽  
Vol 45 (1-2) ◽  
pp. 91-104 ◽  
Author(s):  
Lara Hvidsten ◽  
Knut Engedal ◽  
Geir Selbæk ◽  
Torgeir Bruun Wyller ◽  
Frøydis Bruvik ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Late Onset ◽  
Neuropsychiatric Symptoms ◽  
The Elderly ◽  
Community Dwelling ◽  
Cross Sectional ◽  
Young Onset ◽  
Proxy Version ◽  
Late Onset Dementia

Aims: The aims of this study were to compare quality of life (QOL) in people with young-onset Alzheimer’s (AD) and frontotemporal (FTD) dementia, explore variables associated with QOL, and compare QOL in young-onset dementia (YOD) and late-onset dementia (LOD). Methods: Cross-sectional data from a Nordic multicenter study of 50 community-dwelling participants with AD and 38 with FTD were included. A comparison group consisted of 100 people with LOD. QOL was measured using self-reported Euro-QOL 5-Dimension and the proxy version of Quality of Life in Alzheimer’s Disease (QOL-AD) questionnaire. Neuropsychiatric symptoms and needs were assessed using the Cornell Scale for Depression in Dementia (CSDD), Neuropsychiatric Inventory (NPI), and Camberwell Assessment of Needs in the Elderly. Multiple linear regression and multilevel modeling was used to determine variables associated with QOL. Results: We found no differences between the two YOD groups in QOL. The variables associated with QOL were scores on the CSDD, NPI, and unmet needs. The proxy QOL-AD score in YOD was significantly higher compared to LOD (median 36.0 [IQR 10.0] vs. 33.0 [IQR 9.0]). Conclusion: The QOL in Nordic people with YOD was better compared to people with LOD. Our results show depressive symptoms to be associated with QOL irrespective of age and diagnosis.

scholarly journals Prevalence and Severity of Neuropsychiatric Symptoms in Early- Versus Late-Onset Alzheimer’s Disease

2019 ◽  
Vol 34 (7-8) ◽  
pp. 433-438 ◽  
Author(s):  
Sarah Baillon ◽  
Amy Gasper ◽  
Frances Wilson-Morkeh ◽  
Megan Pritchard ◽  
Amala Jesu ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Late Onset ◽  
Functional Dependence ◽  
Neuropsychiatric Symptoms ◽  
Caregiver Distress ◽  
Duration Of Illness ◽  
Symptom Prevalence ◽  
Early Onset Alzheimer’S Disease

Background: The study aimed to compare neuropsychiatric symptoms (NPS) in people with early-onset Alzheimer’s disease (EOAD) and late-onset AD (LOAD). Methods: Fifty-six participants with LOAD and 24 participants with EOAD having mild dementia were assessed for NPS for their frequency, severity, and caregiver distress as measured by Neuropsychiatry Inventory (NPI) along with assessments of cognition and functional dependence. Results: Participants with EOAD and LOAD were not significantly different for total NPI score ( P = .057). Early-onset Alzheimer disease had greater prevalence of all the NPS except apathy. Participants with EOAD were significantly worse on anxiety ( P = .03), irritability ( P = .01), and sleep ( P < .01) subscales and their carers significantly more distressed by their irritability ( P = .002) and sleeping patterns ( P = .005). Regression analysis showed that higher NPI score was associated with longer duration of illness in EOAD and higher functional dependence in LOAD. Conclusions: The NPS severity was similar between EOAD and LOAD although EOAD had higher symptom prevalence and carer distress.

Exclusion of the candidate locus FSP1 in six families with late-onset autosomal dominant spastic paraplegia

1995 ◽  
Vol 5 (1) ◽  
pp. 11-17 ◽  
Author(s):  
Bertrand Fontaine ◽  
Claire-Sophie Rime ◽  
Jamilé Hazan ◽  
Alexandra Dürr ◽  
Giovanni Stevanin ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Late Onset ◽  
Spastic Paraplegia ◽  
Candidate Locus

scholarly journals Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?

2020 ◽  
Vol 11 ◽  
Author(s):  
Xujun Chu ◽  
Lingchao Meng ◽  
Wei Zhang ◽  
Jinjun Luo ◽  
Zhaoxia Wang ◽  
...  
Keyword(s):  
Nervous System ◽  
Peripheral Nervous System ◽  
Methylenetetrahydrofolate Reductase ◽  
Late Onset ◽  
Hot Spot ◽  
Axonal Neuropathy ◽  
Methylmalonic Aciduria ◽  
Lower Limbs ◽  
Compound Heterozygous ◽  
Limb Weakness

Background: Cobalamin C (cblC) has a fundamental role in both central and peripheral nervous system function at any age. Neurologic manifestations may be the earliest and often the only manifestation of hereditary or acquired cblC defect. Peripheral neuropathy remains a classical but underdiagnosed complication of cblC defect, especially in late-onset cblC disease caused by mutations in the methylmalonic aciduria type C and homocysteinemia (MMACHC) gene. So the clinical, electrophysiological, and pathological characteristics of late-onset cblC disease are not well-known.Methods: A retrospective study of patients with late-onset cblC disease was conducted at our hospital on a 3-year period. The neuropathy was confirmed by the nerve conduction study. Sural biopsies were performed in 2 patients.Results: Eight patients were identified, with a mean onset age of 16.25 ± 6.07 years. All patients had methylmalonic aciduria, homocysteinemia, compound heterozygous MMACHC gene mutations were detected in all patients, and 7/8 patients with c.482G&gt;A mutation. One patient concomitant with homozygote c.665C&gt;T mutation in 5,10-methylenetetrahydrofolate reductase (MTHFR) gene. All patients showed limb weakness and cognitive impairment. Five patients had possible sensorimotor axonal polyneuropathy predominantly in the distal lower limbs. Sural biopsies showed loss of myelinated and unmyelinated fibers. Electro microscopy revealed crystalline-like inclusions bodies in Schwann cells and axonal degeneration.Conclusion: Late-onset cblC disease had possible heterogeneous group of distal axonal neuropathy. c.482G&gt;A mutation is a hot spot mutation in late-onset cblC disease.

scholarly journals PET-detectable tau pathology correlates with long-term neuropsychiatric outcomes in patients with traumatic brain injury

Brain ◽  
2019 ◽  
Vol 142 (10) ◽  
pp. 3265-3279 ◽  
Author(s):  
Keisuke Takahata ◽  
Yasuyuki Kimura ◽  
Naruhiko Sahara ◽  
Shunsuke Koga ◽  
Hitoshi Shimada ◽  
...  
Keyword(s):  
Traumatic Brain Injury ◽  
Brain Injury ◽  
White Matter ◽  
Late Onset ◽  
Neuropsychiatric Symptoms ◽  
Tau Pathology ◽  
Long Term Outcomes

Is tau load associated with long-term outcomes of TBI? By using PET to assess tau deposits in patients with chronic TBI, Takahata et al. reveal elevated tau load compared to age-matched controls, and show that the abundance of tau in white matter is associated with late-onset neuropsychiatric symptoms.

scholarly journals Pathological laughing and psychotic disorder: the medical evaluation of the Joker

2020 ◽  
Vol 120 (6) ◽  
pp. 1379-1382
Author(s):  
Alexis Demas ◽  
David Tillot
Keyword(s):  
Psychotic Disorder ◽  
Psychotic Disorders ◽  
Social Withdrawal ◽  
Neuropsychiatric Symptoms ◽  
Public Health Problem ◽  
Psychotic Symptoms ◽  
Left Frontal Lobe ◽  
Physically Abused ◽  
Medical Evaluation ◽  
Origin Story

Abstract In the psychological thriller film Joker, released in 2019 and starring Joaquin Phoenix in the first role, another possible origin story for this iconic character is reported. Above all, it brings us medical elements for the understanding of the development of this complex character. Contrary to other interpretations, we discover a lonely, timid and uncharismatic man (Arthur Fleck). He seems to be suffering from psychobehavioral disorders and seems depressed. There is a strangeness in his behavior along with social withdrawal. He suffers from fits of laughter that occur at socially inappropriate times. He also suffers from psychotic symptoms with visual delusions. We learn through the film that he was a beaten child, psychologically and physically abused with severe traumatic brain injury (TBI). The uncontrollable outbursts of laughter, behavioral and psychotic disorders followed these elements. As a neurologist, I was intrigued by these symptoms. I have explored the neuropsychiatric symptoms complicating TBI from which he seems to suffer and which have been reported in the literature. We can assume that the Joker is suffering from neuropsychiatric sequelae related to childhood TBI involving the frontotemporal regions and, in particular, the lateral aspect of the left frontal lobe. The movie Joker has medical significance and covers social aspects of medicine and health care. First, it allows us to discuss whether psychotic disorder due to TBI should be considered a neurobiological syndrome. More broadly, albeit fictitious, it asks us about the management of patients with neuropsychiatric illness, which is a public health problem. It also reminds us that semiological descriptions of patients with neuropsychiatric disorders have served as inspiration for many authors.

Subtle neuropsychiatric symptoms of glioblastoma multiforme misdiagnosed as depression

2020 ◽  
Vol 13 (3) ◽  
pp. e233208
Author(s):  
Raphael Jerome Leo ◽  
Jill N Frodey ◽  
Matthew L Ruggieri
Keyword(s):  
Glioblastoma Multiforme ◽  
Psychiatric Symptoms ◽  
Late Onset ◽  
Neuropsychiatric Symptoms ◽  
Diagnostic Assessment ◽  
Atypical Symptoms ◽  
Presenting Symptoms ◽  
Primary Brain Tumours ◽  
Psychiatric Disturbances

Glioblastoma multiforme (GBM) is the most common of the aggressive primary brain tumours arising in adults and has a dire prognosis. Neuropsychiatric symptoms can vary significantly among afflicted persons; psychiatric disturbances may be the predominant presenting symptoms. Distinguishing between functional psychiatric disorders, particularly depression, from other subtle neuropsychiatric disturbances that may accompany GBM can be challenging. The authors present a clinical case and review of the literature in an attempt to highlight the special considerations that should be taken into account when evaluating patients who present with late-onset or atypical symptoms, refractory psychiatric symptoms, or subtle neurological disturbances signalling the need for diagnostic assessment, particularly neuroimaging, for the presence of a tumour. Early diagnosis is critical for improvement in quality of life.

Sign in / Sign up

Export Citation Format

Share Document