Niemann-Pick disease type C: Two cases and an update

Uç, Ergun Y.; Wenger, David A.; Jankovic, Joseph

doi:10.1002/1531-8257(200011)15:6<1199::aid-mds1020>3.0.co;2-1

Cited by 27 publications

(8 citation statements)

References 30 publications

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“…In our opinion, NPC is an underestimated pathology, especially the adult‐onset form, which should always be considered in patients with psychiatric changes, unexplained mental deterioration, ataxia, and dystonia with or without vertical gaze paralysis. When NPC is suspected, in our experience and from literature data,21, 22 filipin staining is the diagnostic technique of choice; bone marrow examination may be normal or aspecific in some cases of the disease, whereas molecular genetic analysis, despite some limitations due to the complexity and availability, can provide a definitive diagnosis of the disease.…”

Section: Discussionmentioning

confidence: 99%

Adult onset Niemann‐Pick type C disease: A clinical, neuroimaging and molecular genetic study

et al. 2003

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We report on a patient with adult-onset Niemann-Pick type C (NPC) disease, carrying the mutations P1007 and I1061T in the NPC1 gene, presenting with marked psychiatric changes followed by dystonia and cognitive impairment. Filipin staining, single photon emission computed tomography perfusional, positron emission tomography metabolic, conventional magnetic resonance imaging, and magnetic resonance spectroscopy findings suggested a pathophysiological correlation with phenotype expression. This case expands the clinical and genetic spectrum of the rare adult-onset NPC disease phenotype.

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Section: Discussionmentioning

confidence: 99%

Adult onset Niemann‐Pick type C disease: A clinical, neuroimaging and molecular genetic study

et al. 2003

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“…Our case studies support clinical heterogeneity of SCA‐6, and highlight the importance of considering this entity in patients with dystonia and cerebellar ataxia. In addition to testing for SCA‐1, SCA‐2, SCA‐3, ataxia telangiectasia, Huntington's disease,17 dentatorubral‐pallidolusyian atrophy, and Niemann‐Pick disease type C18; patients with the combination of dystonia and ataxia and a family history of a neurodegenerative disorder should be also tested for SCA‐6.…”

Section: Discussionmentioning

confidence: 99%

Dystonia in spinocerebellar ataxia type 6

Sethi

Jankovic

2002

Movement Disorders

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Spinocerebellar ataxias are heterogeneous disorders with overlapping clinical features. Spinocerebellar ataxia-6 is a dominantly inherited condition characterized by relatively pure ataxia with a paucity of other manifestations including extrapyramidal findings. We report on two patients with genetically proven SCA-6 who had dystonia. One patient presented initially with dystonia, which remained the most disabling problem. Dystonia may occur in SCA-6 and can be disabling.

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“…Many are diagnosed at postmortem. Thus, the incidence of this variant may be underestimated [Uc et al, 2000;Vanier and Millat, 2003]. Distinguishing features of this syndrome are prematurity, in utero death (30%), nonimmune hydrops fetalis (66%), hepatosplenomegaly, ichthyosis, arthrogryposis, and facial dysmorphia [Mignot et al, 2003].…”

Section: Perinatal Gdmentioning

confidence: 99%

Neuronopathic lysosomal storage diseases: Clinical and pathologic findings

Prada

Grabowski

2013

Dev Disabil Res Revs

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CNS signs and symptoms are variable and related to the disease-specific underlying pathogenesis. LAS dysfunction leads to diverse global cellular consequences in the CNS ranging from specific axonal and dendritic abnormalities to neuronal death. Pathogenic mechanisms for disease progression vary from impaired autophagy, massive storage, regional involvement, to end-stage inflammation. Some of these features are also found in adult neurodegenerative disorders, for example, Parkinson's and Alzheimer's diseases. Lack of effective therapies is a significant unmet medical need.

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Niemann-Pick disease type C: Two cases and an update

Cited by 27 publications

References 30 publications

Adult onset Niemann‐Pick type C disease: A clinical, neuroimaging and molecular genetic study

Adult onset Niemann‐Pick type C disease: A clinical, neuroimaging and molecular genetic study

Dystonia in spinocerebellar ataxia type 6

Neuronopathic lysosomal storage diseases: Clinical and pathologic findings

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