Niemann-pick type c disease
Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat
... of disease severity at intake, the difficul- ties in maintaining recording quality in a significantly im- paired population and variations in test-retest frequency and ...
8
Cholinergic Abnormalities, Endosomal Alterations and Up-Regulation of Nerve Growth Factor Signaling in Niemann-Pick Type C Disease
... The conserved response to NGF in NPC1 -/- mice was surprising because we found that the morphological alterations of MS cholinergic neurons in NPC1 -/- mice were similar to those of neurons from different brain regions, ...
18
Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease
... clinical disease, but also showed dramatically less storage of cholesterol and sphingolipids and lived nearly twice their normal life- ...NPC disease pre- vented the onset of cerebellar dysfunction for ...
11
Atypical multisensory integration in Niemann Pick type C disease towards potential biomarkers
... Key to advancing new treatments for this and related lysosomal diseases with neural involvement is the devel- opment of objective biomarkers of neurological function against which the efficacy of new drugs can be tested ...
13
New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
... rological disease progression in adult, juvenile and pediatric patients with NP-C, particularly those diagnosed in late childhood (6–11 years) and in juveniles and adults (12 years and older), compared with ...
11
Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study
... Patient 1a presented with ataxia and cognitive decline from the age of 9 years. He developed dystonia and dystonic-athetoid movement disorder in the second dec- ade and suffered dysphagia, rare psychotic episodes and ...
9
Proteomics of the corpus callosum to identify novel factors involved in hypomyelinated Niemann-Pick Type C disease mice
... Sample preparation for mass spectrometric analysis Tissues were frozen by liquid nitrogen and ground rigor- ously by pre-chilled flame-polished glass rods. The ground samples were homogenized in 150 μl of 8 M urea and 50 ...
11
Cognitive impairment profile in adult patients with Niemann pick type C disease
... this disease; executive and attention dysfunctions are found in many neurological ...to disease duration and disease severity (particularly for MMSE and ...the disease, whereas the Find ...
10
Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review
... The age of onset of NP-C can range from the perinatal period to adulthood, with symptomatology varying with age of onset. Early-onset NP-C tends to be more severe and rapidly progressive than adult-onset ...
10
Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report
... Case presentation: In Case 1, a 25-year-old man presented with a 14-year history of intellectual disability, clumsiness, spastic ataxia, dysphagia, and frequent falls. Neurological examination revealed vertical ...
6
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease
... from 125 subjects (NPC patients, NPC heterozygotes and healthy controls) that were previously collected and analyzed by FM Platt and colleagues in the scope of a 5- year international prospective study investigating ...
8
Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case report
... Here we report on a case with abnormal clinical and laboratory findings of NPD type A in a heterozygous indi- vidual who carried only one pathogenic mutation in the SMPD1 gene (NM_000543.4(SMPD1):c.573delT ...
6
Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients
... The current diagnosis of NP-C was mainly filipin stain- ing for unesterified cholesterol of cultured fibroblasts obtained through invasive skin biopsy. The positive indi- viduals were then followed by genetic ...
10
Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat
... with late-infantile or juvenile-onset NPC1 and one male patient with severe early-infantile onset NPC2 [18]. These patients received miglustat therapy, dosed accord- ing to BSA for between 3 and 4 years. The severity of ...
17
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
... the disease, sometimes decades be- fore other neurological symptoms, and was not consid- ered a good marker of neurodegeneration onset; and 3) the association between cognitive developmental symp- toms and initial ...
12
An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family
... NP-C was previously thought to show strictly classical autosomal-recessive inheritance, with both parents being obligate carriers of the disease. Our current results suggest the presence of paternal ...
6
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials
... Another issue in trial design relates to patient num- bers needed for these studies. The miglustat study in NPC was based on pragmatic considerations and no power calculation was used [3]. Power calculations are required ...
16
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C
... NPC disease there are no biochemical markers, used to evaluate the efficacy of treatment, that clearly corre- lates with the severity of clinical ...of disease evolution over ...
11
Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C
... Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by the occurrence of visceral and neurological ...this disease are ...(FTD)/Alzheimer ...
13
Saccharomyces cerevisiae Npc2p Is a Functionally Conserved Homologue of the Human Niemann-Pick Disease Type C 2 Protein, hNPC2
... CTxB assays. Cholera toxin B (CTxB) assays performed on human fibroblasts were carried out as follows. hNPC2 ⫺/⫺ fibroblasts were grown and infected as described for filipin assays. Prior to fixation, cells were washed ...
12