Adult-onset neuronal intranuclear inclusion disease mimicking Fragile X-associated tremor-ataxia syndrome in ethnic Chinese patients

Lim SY; Ishiura H; Ramli N; Shibata S; Almansour MA; Tan AH; Houlden H; Lang AE; Tsuji S

doi:10.1016/j.parkreldis.2020.03.025

Adult-onset neuronal intranuclear inclusion disease mimicking Fragile X-associated tremor-ataxia syndrome in ethnic Chinese patients

Lim SY ¹ , Ishiura H ² , Ramli N ³ , Shibata S ² , Almansour MA ² , Tan AH ⁴ Show all authors , Houlden H ⁵ , Lang AE ⁶ , Tsuji S ⁷

Affiliations

¹ Division of Neurology and the Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. Electronic address: [email protected]
² Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan
³ Division of Neuroradiology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
⁴ Division of Neurology and the Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
⁵ Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom
⁶ Edmond J Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Canada
⁷ Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan; Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan

Parkinsonism Relat Disord, 2020 05;74:25-27.

PMID: 32289521 DOI: 10.1016/j.parkreldis.2020.03.025

Abstract

Two ethnic Chinese men with clinico-radiologic features of Fragile X-associated tremor-ataxia syndrome (FXTAS) were found on genetic testing to have neuronal intranuclear inclusion disease (NIID), highlighting that NIID should be considered in the differential diagnosis of FXTAS. NIID may also be much more common than FXTAS in certain Asian populations.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.