Hafiz Khuram Raza1, Sandeep Singh2, Pabitra Rai2, Thitsavanh Chansysouphanthong2, Arooj Amir3, Guiyun Cui4, Wenjing Song1, Lei Bao1, Su Zhou1, Hongjuan Shi1, Hao Chen5. 1. Department of Neurology, Affiliated Hospital of Xuzhou Medical University, 221002, Xuzhou, P.R. China. 2. School of International Education, Xuzhou Medical University, 221002, Xuzhou, P.R. China. 3. Central Park Medical College, Lahore, Pakistan. 4. Department of Neurology, Affiliated Hospital of Xuzhou Medical University, 221002, Xuzhou, P.R. China. cuiguiyun-js@hotmail.com. 5. Department of Neurology, Affiliated Hospital of Xuzhou Medical University, 221002, Xuzhou, P.R. China. haochen-2008@hotmail.com.
Abstract
OBJECTIVE: To summarize the current understanding of neuronal intranuclear inclusion disease (NIID) and improve the understanding of the physician about this condition. METHODS: We searched PubMed with keywords related to NIID and selected publications which seemed appropriate. We analyzed its clinical features, pathogenesis, evaluation methods, treatment options, and research prospectives. RESULTS: NIID is a degenerative condition which can affect multiple organ systems especially central nervous system. Its clinical features greatly vary, and making the exact diagnosis is often difficult. There are several genes which have been associated with this disorder. Some specific signs on diffusion-weighted-imaging (DWI) sequence of magnetic resonance (MR) imaging are characteristics to NIID. CONCLUSION: Intranuclear inclusions have been found in various nonneural cells of the body; therefore, the term systemic intranuclear inclusion disease is, perhaps, better suited to explain this disorder. There are several disorders which need to be ruled out before making the diagnosis, and neuroimaging and biopsy analysis should be combined to support the diagnosis.
OBJECTIVE: To summarize the current understanding of neuronal intranuclear inclusion disease (NIID) and improve the understanding of the physician about this condition. METHODS: We searched PubMed with keywords related to NIID and selected publications which seemed appropriate. We analyzed its clinical features, pathogenesis, evaluation methods, treatment options, and research prospectives. RESULTS:NIID is a degenerative condition which can affect multiple organ systems especially central nervous system. Its clinical features greatly vary, and making the exact diagnosis is often difficult. There are several genes which have been associated with this disorder. Some specific signs on diffusion-weighted-imaging (DWI) sequence of magnetic resonance (MR) imaging are characteristics to NIID. CONCLUSION: Intranuclear inclusions have been found in various nonneural cells of the body; therefore, the term systemic intranuclear inclusion disease is, perhaps, better suited to explain this disorder. There are several disorders which need to be ruled out before making the diagnosis, and neuroimaging and biopsy analysis should be combined to support the diagnosis.