Clinical diagnosis of the adult form of Niemann-Pick type C disease

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
Frédéric Sedel

Abstract

The adult form of Niemann-Pick type C disease displays specific phenotypic, biochemical and genetic features that differentiate it from the infantile and juvenile ones. This form is often linked to the variant biochemical phenotype with mild abnormalities of the filipin test that can make the diagnosis difficult. Visceral signs usually consist in an asymptomatic hepato splenomegaly which can be present since early childhood, remains poorly progressive, and may not be detected unless abdominal ultrasonography is performed. Psychiatric signs and cognitive troubles constitute the most frequent revealing symptoms in adults and can sometimes appear after 50 years. During the clinical course, main clinical features include vertical supranuclear gaze palsy, cerebellar ataxia, dysarthria, cognitive troubles and movement disorders. Because of these poorly specific signs at onset, the diagnosis is often delayed. Clinicians must know how to recognize mild vertical supranuclear gaze palsy, which is an almost constant and very specific feature. An early diagnosis is mandatory since the treatment seems more efficient when started early.

References

Nov 26, 2002·Annals of Neurology·Hans H KlünemannWilliam W Pendlebury
May 3, 2005·The American Journal of Psychiatry·Danny SullivanDennis Velakoulis
Jul 18, 2006·Journal of Neurology, Neurosurgery, and Psychiatry·G TrendelenburgR Zschenderlein
Aug 11, 2007·Lancet Neurology·Marc C PattersonJames E Wraith

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Citations

Jan 18, 2013·Orphanet Journal of Rare Diseases·Marc C PattersonMercé Pineda
Mar 22, 2016·The International Journal of Neuroscience·Vincenzo Di LazzaroStefano De Santis
Nov 14, 2020·Journal of Neural Transmission·Rebecca HerzogAlexander Münchau
May 23, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Giuseppa MarescaFrancesco Corallo

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