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

Battisti, Carla; Tarugi, Patrizia; Dotti, Maria Teresa; Stefano, Nicola De; Vattimo, A; Chierichetti, Francesea; Calandra, Sebastiano; Federico, Antonio

doi:10.1002/mds.10541

Cited by 40 publications

(23 citation statements)

References 18 publications

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“…[21,22] Psychiatric changes are often followed by dystonia and cognitive impairment. [23] These findings are consistent with MRI and EEG findings in the present study. Clinical signs for NP-C include common features like cataplexy, seizures and dystonia.…”

Section: An Illustrative Casesupporting

confidence: 95%

Niemann-Pick disease type C: analysis of 7 patients

et al. 2011

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NP-C is a rare autosomal recessive inherited lysosomal storage disease that affects the intellectual development of children and may lead to dementia, vegetative state or death. Clinical features of this disease include vertical supranuclear gaze palsy, seizures and cataplexy. Laboratory features include abnormal plasma cholesterol level, and sea-blue cells and Niemann-Pick cells in bone marrow smears. The treatments of the disease include supporting or symptomatic administration.

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Section: An Illustrative Casesupporting

confidence: 95%

Niemann-Pick disease type C: analysis of 7 patients

et al. 2011

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“…Tedeschi et al 15 described proton MR spectroscopy parameters in 10 (mostly adult) patients compared with controls and showed reduced NAA/creatine ratios in the caudate. Battisti et al 16 described significant frontal cortex, thalamic, and cerebellar hypoperfusion on FDG-PET associated with illness progression. Zaaraoui et al 17 compared 2 patients individually against a group of controls by using magnetization transfer ratio and found reductions in the thalamus, putamen and globus pallidus, and cerebellum.…”

Section: Discussionmentioning

confidence: 99%

Subcortical Volumetric Reductions in Adult Niemann-Pick Disease Type C: A Cross-Sectional Study

Walterfang

Patenaude

Abel³

et al. 2012

AJNR Am J Neuroradiol

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“…This region of the spectrum is usually attributed to lipids, but in maple syrup disease is believed to represent resonances of methyl protons from branched chain amino acids and branched-chain α-keto acids that accumulate as a result of defective oxydative decarboxylation of leucine, isoleucine and valine [23]. Also 1 H-MRS studies on patients with Niemann-Pick type C disease have shown increased resonance intensity of the lipid region of the spectrum, probably due, in this case, to a defective metabolism of cholesterol with ceramide accumulation [24,25]. In both maple syrup and Niemann-Pick type C diseases, the abnormal broad peak detectable at 0.9 ppm seems to decrease with appropriate therapy [23,24].…”

Section: Diagnostic Specific 1 H-mrs Changesmentioning

confidence: 99%

Proton Magnetic Resonance Spectroscopy in Brain Metabolic Disorders

Stefano

Mortilla

2007

Clin Neuroradiol

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Metabolic disorders of the central nervous system (CNS) include pathologies with extremely different pathogenesis. The clinical diagnosis of these disorders is often very difficult and requires sophisticated laboratory investigations. Proton magnetic resonance (MR) spectroscopy ( 1 H-MRS) has recently been used in a number of clinical studies to supplement conventional MRI as it is able to provide in vivo biochemical assay of a given brain tissue. Brain data on several neurometabolic diseases suggest that 1 H-MRS can provide in vivo chemical-pathologic characterization of the abnormality visualized by magnetic resonance imaging (MRI) and can detect metabolic alterations in tissue appearing normal on conventional MRI. This may help for differential diagnosis and can be important in the evaluation of disease outcome. Indices provided by 1 H-MRS have been demonstrated to be relevant to patients' clinical status, to represent sensitive indicators of early neurologic involvement and to be helpful in monitoring effects of therapeutic interventions. This suggests that, in the next future, a more extensive use of brain 1 H-MRS in the management of patients with metabolic disorders affecting CNS should be encouraged. ZusammenfassungStoffwechselstörungen des zentralen Nervensystems (ZNS) umfassen Erkrankungen mit äußerst unterschiedlicher Pathogenese. Klinisch gestaltet sich die Diagnose dieser Erkrankungen häufig ausgesprochen schwierig und erfordert daher differenzierte Labortests. Da die Protonen-Magnetresonanzspektroskopie ( 1 H-MRS) ein biochemisches Profil des untersuchten Hirngewebes in vivo erstellt, wird sie in letzter Zeit in einer Reihe klinischer Studien eingesetzt, um die konventionelle Magnetresonanztomographie (MRT) zu ergänzen. Die daraus für verschiedene Stoffwechselerkrankungen des Gehirns gewonnenen Daten legen nahe, dass 1 H-MRS sowohl die chemisch-pathologischen In-vivo-Charakteristika der mittels MRT visualisierten Auffälligkeiten als auch Stoffwechselveränderungen innerhalb des übrigen, in der MRT normal erscheinenden Gewebes zu erfassen vermag. Das kann differentialdiagnostisch und prognostisch von Nutzen sein. So wurde bereits gezeigt, dass spektroskopische Indizes den klinischen Zustand von Patienten reflektieren, dass sie sensitive Indikatoren für eine frühe neurologische Beteiligung bei Stoffwechselerkrankungen darstellen und dass sie hilfreich sein können, um Therapieeffekte zu überwachen. Das legt nahe, dass die 1 H-MRS in Zukunft verstärkt bei das ZNS erfassenden Stoffwechselstörungen angewendet werden sollte.

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

Cited by 40 publications

References 18 publications

Niemann-Pick disease type C: analysis of 7 patients

Niemann-Pick disease type C: analysis of 7 patients

Subcortical Volumetric Reductions in Adult Niemann-Pick Disease Type C: A Cross-Sectional Study

Proton Magnetic Resonance Spectroscopy in Brain Metabolic Disorders

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