Neuronal Intranuclear Inclusion Disease
Conditions
Interventions
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: 1. Clinically, it has a wide range of neurological symptoms, such as central peripheral autonomy, among which the symptoms of central nervous system damage is the most important and necessary condition; 2. Continuous high signal intensity of DWI at the corticomedullary junction is a prerequisite for imaging. High signal intensity of white matter mainly in frontal lobe is a secondary reference condition for T2 FLAIR sequence. High signal intensity of FLAIR sequence beside cerebellar vermis and middle cerebellar foot is rare and has certain characteristics; 3. Pathological examination is the gold standard for diagnosis. Skin biopsy is recommended to show eosinophilic intranuclear inclusions; 4. Know and cooperate with the researcher.
Exclusion criteria
Exclusion criteria: 1. Other similar imaging manifestations; 2. Fragile X-related tremor ataxia syndrome with similar symptoms; 3. Critical patients with unstable vital signs.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| gene;Tumor markers;blood glucose;blood fat;Liver and kidney function ;Detection of thyroid function;AB1-42;MRI;Immunohistochemistry of tissue ;Urinological index;Other blood - related indicators;Histone rustic analysis;Various mental and cognitive scales; | — |
Countries
China
Contacts
Department of Neurology, Affiliated Hospital of Xuzhou Medical University