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

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.Neuronal intranuclear inclusion disease (NIID) was considered a rare juvenile-onset disease; however, the characterization of skin biopsy and neuroimaging abnormalities led to many more cases being diagnosed, including patients with adult-onset movement disorders (cerebellar ataxia, tremor, parkinsonism), dementia, peripheral neuropathy, or autonomic dysfunction [1,2].

Source: Parkinsonism and Related Disorders - April 7, 2020 Category: Neurology Authors: Shen-Yang Lim, Hiroyuki Ishiura, Norlisah Ramli, Shota Shibata, M. Asem Almansour, Ai Huey Tan, Henry Houlden, Anthony E. Lang, Shoji Tsuji Tags: Correspondence Source Type: research