Journal
MOVEMENT DISORDERS CLINICAL PRACTICE
Volume 7, Issue 8, Pages 961-964Publisher
WILEY
DOI: 10.1002/mdc3.13085
Keywords
Niemann-Pick disease type C; adult-onset; differential diagnosis; supranuclear vertical gaze palsy
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Funding
- University of California San Diego Movement Disorders Fellowship
- National Institutes of Health [5P50AG005131-33, 2R01AG038791-06A, U01NS090259, U01NS100610, U01NS80818, R25NS098999, P20GM109025, U19 AG063911-1]
- Parkinson Study Group
- Michael J Fox Foundation
- Parkinson Foundation
- Lewy Body Association
- Roche
- Abbvie
- Biogen
- EIP-Pharma
- Biohaven Pharmaceuticals
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Background: -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.
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