Category: Rare Genetic and Metabolic Diseases
Objective: To report a rare case of adult onset neuronal intranuclear inclusion disease (NIID) presented with gait disturbance and fall, and finally confirmed with skin biopsy and genetic analysis
Background: NIID is a sporadic disease confirmed in less than 200 cases around the world. The inheritance patterns are sporadic and familial, and onset ages are variable from infantile to a late period. The main symptom of NIID is progressive or episodic repeated dementia (>94%), however, motor weakness, ataxia, mental change, headache, recurrent vomiting, tremor, and gait disturbance were reported. For this wide range of symptoms and inheritance patterns, diagnosis of NIID is complicated. We showed the patient with a rare presentation like gait disturbance but a definite MRI image of NIID.
Method: We performed a neurological evaluation, cognitive assessment, skin biopsy, and genetic analysis of a patient with late-onset, progressive gait disturbance, and cognitive impairment.
Results: The patient initially showed gait imbalance, falls, progressive bradykinesia, and cognitive impairment however, no cerebellar dysfunction and dysmetria on both limbs or trunk. The UPDRS motor score (III) was 19, and FP-CIT-PET was normal. Multiple higher cortical dysfunction that is severe enough to interfere with her activities of daily living (CDR=1, CDR-SB=6, MMSE=26, K-IADL=0.38). Brain MRI showed multiple high signal intensities in the corticomedullary junction on DWI. A few intranuclear inclusions were observed in the thigh and calfskin biopsy and confirmed by GGC repeat expansion (n=107) of the NOTCH2NLC gene.
Conclusion: We described the rare clinical phenotype of an adult-onset NIID patient, which was confirmed by skin biopsy and genetic analysis. Even though the clinical spectrums of NIID are vast, the classical DWI findings can be a clue for diagnosing NIID.
To cite this abstract in AMA style:
E. Oh, S. Lee. Adult onset neuronal Intranuclear Inclusion Disease (NIID) which initially presented with gait imbalance and fall [abstract]. Mov Disord. 2023; 38 (suppl 1). https://www.mdsabstracts.org/abstract/adult-onset-neuronal-intranuclear-inclusion-disease-niid-which-initially-presented-with-gait-imbalance-and-fall/. Accessed May 13, 2025.« Back to 2023 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/adult-onset-neuronal-intranuclear-inclusion-disease-niid-which-initially-presented-with-gait-imbalance-and-fall/