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Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life
Author(s) -
Wu Melanie,
Ceponiene Rita,
Bayram Ece,
Litvan Irene
Publication year - 2020
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.13085
Subject(s) - progressive supranuclear palsy , ataxia , medicine , pediatrics , palsy , gaze , disease , ocular motility disorders , cerebellar ataxia , psychology , physical medicine and rehabilitation , audiology , neuroscience , pathology , eye movement , psychoanalysis , alternative medicine
Background Niemann‐Pick disease type C (NPC) is a rare, autosomal recessive lysosomal lipid storage disorder. It may present with cerebellar ataxia, vertical supranuclear gaze palsy, and cognitive impairment, and the age of symptom onset in adult‐onset NPC is usually earlier than the fourth decade. Cases We present 2 patients with adult‐onset NPC diagnosed in the seventh decade of life. The slow motor progression and subtle findings of supranuclear vertical gaze palsy and ataxia can lead to a delayed diagnosis and misdiagnosis with parkinsonian disorders, particularly progressive supranuclear palsy. Conclusion This report highlights and differentiates key clinical characteristics between NPC and parkinsonian disorders. It is important to consider NPC in the differential diagnosis when patients present with slowed vertical saccades, vertical supranuclear gaze palsy, ataxia, and cognitive impairment present at any age. This will allow appropriate and prompt treatment with miglustat and novel experimental therapies.