Vertical supranuclear gaze palsy in Niemann-Pick type C disease

Salsano, Ettore; Umeh, Chizoba C.; Rufa, Alessandra; Pareyson, Davide; Zee, David S.

doi:10.1007/s10072-012-1155-1

Cited by 55 publications

(61 citation statements)

References 71 publications

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“…1 However, vertical supranuclear gaze palsy is not disease specific and in our patient led to the genetically confirmed diagnosis of Niemann-Pick disease type C. 2 This shows that the presence of the "round the houses" sign should raise suspicion of a treatable diagnosis of Niemann-Pick disease type C.…”

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confidence: 64%

Teaching Video Neuro Images : The “round the houses” sign as a clinical clue for Niemann-Pick disease type C

et al. 2016

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confidence: 64%

Teaching Video Neuro Images : The “round the houses” sign as a clinical clue for Niemann-Pick disease type C

et al. 2016

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“…Typical neurological manifestations include vertical supranuclear gaze palsy [14], saccadic eye movement abnormalities, cerebellar ataxia, dystonia, dysmetria, dysphagia, and dysarthria [1]. The central nervous system (CNS) deficits are associated with the presence of meganeurites, ectopic dendrites, and axonal spheroids [15].…”

Section: Incidence and Pathologymentioning

confidence: 99%

Treatment of Niemann–Pick Type C Disease by Histone Deacetylase Inhibitors

Helquist

Maxfield

Wiech³

et al. 2013

Neurotherapeutics

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“…Impaired saccadic eye movement abnormalities progressing to a characteristic vertical supranuclear gaze palsy (VSGP) are also observed in a majority of cases, and have been associated with midbrain atrophy [10][11][12][13] . Cataplexy and various forms of epileptic seizures are also commonly seen, particularly among late-infantile and juvenile-onset patients [7,14,15] .…”

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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Vertical supranuclear gaze palsy in Niemann-Pick type C disease

Cited by 55 publications

References 71 publications

Teaching Video Neuro Images : The “round the houses” sign as a clinical clue for Niemann-Pick disease type C

Teaching Video Neuro Images : The “round the houses” sign as a clinical clue for Niemann-Pick disease type C

Treatment of Niemann–Pick Type C Disease by Histone Deacetylase Inhibitors

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

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