Niemann-Pick Type C Disease - Report on Results from the Niemann-Pick Type C Patient and Healthcare Professional Survey

2011 ◽  
Vol 6 (1) ◽  
pp. 12
Author(s):  
Hans H Klünemann ◽  
J Edmond Wraith ◽  
Frits A Wijburg ◽  
◽  
◽  
...  
Keyword(s):  
Healthcare Professional ◽  
Specific Treatment ◽  
The Body ◽  
Neurological Symptoms ◽  
Diagnostic Process ◽  
Abnormal Accumulation ◽  
Recent Developments ◽  
Type C ◽  
Niemann Pick ◽  
Disease Specific

Niemann-Pick type C disease (NPC) is a rare and progressive genetic condition that is associated with an abnormal accumulation of lysosomal lipids in the body, which manifests as a variety of neurological symptoms that range greatly in severity. Management focuses largely on treating symptoms, but recent developments have led to disease-specific therapy that can slow or stabilise the progression of neurological symptoms in some patients. The Niemann-Pick type C Patient and Healthcare Professional Survey conducted interviews with parents and carers of patients with NPC and with healthcare professionals to identify areas of NPC diagnosis, management and support that need improvement. Specifically, an emphasis was placed on increased awareness of the disease and disease symptoms with enhanced communication between doctors, their colleagues and parents of patients in order to facilitate the diagnostic process and the hope for earlier diagnoses, thereby enabling access to disease-specific treatment. The survey identified a need among families of patients with NPC for more support from doctors in the provision of information about the disease and about locally based social and psychological support, and for support from healthcare organisations that should coordinate all the available services. Such co-ordination could ensure that consistent support is provided for all aspects of patient care and for patients’ families and carers.

Hepatosplenomegaly and progressive neurological symptoms - Late manifestation of Niemann-Pick disease type C - a case report -

2001 ◽  
Vol 39 (11) ◽  
pp. 971-974 ◽  
Author(s):  
A R. J Schneider, MD ◽  
F Stichling, MD ◽  
M Hoffmann, MD ◽  
R Scheler, MD ◽  
J C Arnold, MD ◽  
...  
Keyword(s):  
Case Report ◽  
Disease Type ◽  
Neurological Symptoms ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Late Manifestation ◽  
Pick Disease

Model construction of Niemann-Pick type C disease in zebrafish

2018 ◽  
Vol 399 (8) ◽  
pp. 903-910 ◽  
Author(s):  
Yusheng Lin ◽  
Xiaolian Cai ◽  
Guiping Wang ◽  
Gang Ouyang ◽  
Hong Cao
Keyword(s):  
Molecular Mechanisms ◽  
Treatment Options ◽  
Lipid Profiling ◽  
Zebrafish Model ◽  
Reduced Body ◽  
Significant Difference ◽  
Abnormal Accumulation ◽  
Purkinje Cell Death ◽  
Type C ◽  
Niemann Pick

Abstract Niemann-Pick type C disease (NPC) is a rare human disease, with limited effective treatment options. Most cases of NPC disease are associated with inactivating mutations of the NPC1 gene. However, cellular and molecular mechanisms responsible for the NPC1 pathogenesis remain poorly defined. This is partly due to the lack of a suitable animal model to monitor the disease progression. In this study, we used CRISPR to construct an NPC1−/− zebrafish model, which faithfully reproduced the cardinal pathological features of this disease. In contrast to the wild type (WT), the deletion of NPC1 alone caused significant hepatosplenomegaly, ataxia, Purkinje cell death, increased lipid storage, infertility and reduced body length and life span. Most of the NPC1−/− zebrafish died within the first month post fertilization, while the remaining specimens developed slower than the WT and died before reaching 8 months of age. Filipin-stained hepatocytes of the NPC1−/− zebrafish were clear, indicating abnormal accumulation of unesterified cholesterol. Lipid profiling showed a significant difference between NPC1−/− and WT zebrafish. An obvious accumulation of seven sphingolipids was detected in livers of NPC1−/− zebrafish. In summary, our results provide a valuable model system that could identify promising therapeutic targets and treatments for the NPC disease.

Psychiatric Manifestations of Niemann-pick Type c Disease – Two Case Reports

2016 ◽  
Vol 33 (S1) ◽  
pp. 1-1 ◽  
Author(s):  
J. Rebelo ◽  
M. Oliveira ◽  
P. Nunes
Keyword(s):  
Metabolic Diseases ◽  
Psychiatric Symptoms ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Specific Treatment ◽  
Autosomal Recessive Inheritance ◽  
Ataxic Gait ◽  
Type C ◽  
Niemann Pick ◽  
Psychiatric Manifestations

IntroductionNiemann-Pick type C disease (NPCD) is a rare metabolic illness, with autosomal recessive inheritance. NPCD has a heterogeneous presentation, with non-specific psychiatric symptoms, mostly affective and psychotic features and also cognitive deficits.Objectives and methodsWe present the case reports of two brothers with an adolescent-adult onset and discuss the evolution of their neuropsychiatric manifestations.ResultsThe patients have now 35 and 31 years old and the youngest was the first to develop clinical manifestations of the disease. From 16 years old, he developed unspecified neurological impairment with gait imbalance. In the next years, the neurologic manifestations exacerbated, with dysarthria, ataxic gait, and his academic performance declined. With 24 years old, he presented acute psychosis, with unstructured delusion and auditory hallucinations. The acute psychotic symptomatology remitted with olanzapine but he revealed social withdrawal, apathy and progressive cognitive decline that persist until now. His brother, whose diagnosis was made in the course of the family genetic study, developed the first signs of the NPCD with 19 years old. He presented neuropsychiatric compromise, with impaired learning, social isolation and insomnia. They are receiving specific treatment with miglustat and symptomatic treatment for the psychiatric manifestations.ConclusionsNPCD is a rare metabolic disease, with neuropsychiatric compromise. No general psychopathological profile has been associated to NPCD. Sometimes psychiatric symptoms dominate the initial clinical presentation, with neuro-visceral signs appearing later. An atypical psychiatric symptomatology should be extensively investigated in order to exclude organic causes, including metabolic diseases like NPCD.Disclosure of interestThe authors have not supplied their declaration of competing interest.

Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann‐Pick type C disease

2008 ◽  
Vol 22 (10) ◽  
pp. 3617-3627 ◽  
Author(s):  
Alejandra R. Alvarez ◽  
Andres Klein ◽  
Juan Castro ◽  
Gonzalo I. Cancino ◽  
Julio Amigo ◽  
...  
Keyword(s):  
Mouse Model ◽  
Neurological Symptoms ◽  
Imatinib Therapy ◽  
Type C ◽  
Niemann Pick

scholarly journals Complex dystonias: an update on diagnosis and care

2020 ◽  
Author(s):  
Rebecca Herzog ◽  
Anne Weissbach ◽  
Tobias Bäumer ◽  
Alexander Münchau
Keyword(s):  
Movement Disorders ◽  
Current Knowledge ◽  
Specific Treatment ◽  
Diagnostic Workup ◽  
Disease Course ◽  
Systemic Manifestation ◽  
Recent Developments ◽  
Systemic Manifestations ◽  
Cardinal Sign ◽  
Disease Specific

AbstractComplex dystonias are defined as dystonias that are accompanied by neurologic or systemic manifestations beyond movement disorders. Many syndromes or diseases can present with complex dystonia, either as the cardinal sign or as part of a multi-systemic manifestation. Complex dystonia often gradually develops in the disease course, but can also be present from the outset. If available, the diagnostic workup, disease-specific treatment, and management of patients with complex dystonias require a multi-disciplinary approach. This article summarizes current knowledge on complex dystonias with a particular view of recent developments with respect to advances in diagnosis and management, including causative treatments.

scholarly journals Abnormal accumulation and recycling of glycoproteins visualized in Niemann-Pick type C cells using the chemical reporter strategy

2013 ◽  
Vol 110 (25) ◽  
pp. 10207-10212 ◽  
Author(s):  
N. E. Mbua ◽  
H. Flanagan-Steet ◽  
S. Johnson ◽  
M. A. Wolfert ◽  
G.-J. Boons ◽  
...  
Keyword(s):  
C Cells ◽  
Abnormal Accumulation ◽  
Chemical Reporter ◽  
Type C ◽  
Niemann Pick

scholarly journals Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease

2020 ◽  
Vol 21 (14) ◽  
pp. 5059 ◽  
Author(s):  
Berna Seker Yilmaz ◽  
Julien Baruteau ◽  
Ahad A. Rahim ◽  
Paul Gissen
Keyword(s):  
Neurological Symptoms ◽  
Novel Therapy ◽  
Clinical Patient ◽  
Molecular Features ◽  
Niemann Pick Disease ◽  
Exon 1 ◽  
Type C ◽  
Vertical Supranuclear Gaze Palsy ◽  
Niemann Pick ◽  
Prolonged Jaundice

Niemann Pick disease type C (NPC) is a neurovisceral disorder due to mutations in NPC1 or NPC2. This review focuses on poorly characterized clinical and molecular features of early infantile form of NPC (EIF) and identified 89 cases caused by NPC1 (NPC1) and 16 by NPC2 (NPC2) mutations. Extra-neuronal features were common; visceromegaly reported in 80/89 NPC1 and in 15/16 NPC2, prolonged jaundice in 30/89 NPC1 and 7/16 NPC2. Early lung involvement was present in 12/16 NPC2 cases. Median age of neurological onset was 12 (0–24) and 7.5 (0–24) months in NPC1 and NPC2 groups, respectively. Developmental delay and hypotonia were the commonest first detected neurological symptoms reported in 39/89 and 18/89 NPC1, and in 8/16 and 10/16 NPC2, respectively. Additional neurological symptoms included vertical supranuclear gaze palsy, dysarthria, cataplexy, dysphagia, seizures, dystonia, and spasticity. The following mutations in homozygous state conferred EIF: deletion of exon 1+promoter, c.3578_3591 + 9del, c.385delT, p.C63fsX75, IVS21-2delATGC, c. 2740T>A (p.C914S), c.3584G>T (p.G1195V), c.3478-6T>A, c.960_961dup (p.A321Gfs*16) in NPC1 and c.434T>A (p.V145E), c.199T>C (p.S67P), c.133C>T (p.Q45X), c.141C>A (p.C47X) in NPC2. This comprehensive analysis of the EIF type of NPC will benefit clinical patient management, genetic counselling, and assist design of novel therapy trials.

Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry

2017 ◽  
Vol 20 (4) ◽  
pp. 310-319 ◽  
Author(s):  
Olivier Bonnot ◽  
Clarissa S. Gama ◽  
Eugen Mengel ◽  
Mercè Pineda ◽  
Marie T. Vanier ◽  
...  
Keyword(s):  
Disease Type ◽  
Neurological Symptoms ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder

2019 ◽  
Vol 19 (5) ◽  
pp. 420-423
Author(s):  
Meher Lad ◽  
Rhys H Thomas ◽  
Kirstie Anderson ◽  
Timothy D Griffiths
Keyword(s):  
Disease Process ◽  
Red Flags ◽  
Lysosomal Storage ◽  
Juvenile Onset ◽  
Recent Developments ◽  
Type C ◽  
Niemann Pick ◽  
Vertical Gaze ◽  
Treatable Condition ◽  
Gaze Palsy

Niemann-Pick type C is an uncommon neurodegenerative lysosomal storage disorder that can cause a progressive neuropsychiatric syndrome associated with supranuclear vertical gaze palsy and a movement disorder. There have been recent developments in testing that make diagnosis easier and new therapies that aim to stabilise the disease process. A new biochemical test to measure serum cholesterol metabolites supersedes the skin biopsy and is practical and robust. It is treatable with miglustat, a drug that inhibits glycosphingolipid synthesis. We describe a patient, aged 22 years, with juvenile-onset Niemann-Pick type C who presented with seizures and a label of ‘cerebral palsy’. We describe the approach to this syndrome in general, and highlight the classical features and red flags that should alert a neurologist to this treatable condition.

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