Investigations of Juvenile Neuronal Ceroid Lipofuscinosis

Inclusion Criteria

• •For the Main and Sub-Studies, participants \> 1 week of age, of all genders, demographics, geographic locations, and disease severity will be recruited in order to obtain cross-sectional representation of CLN3-related conditions (Main and Sub-Studies) or all NCLs (Sub-Study B). Participants in the Main study will be followed at approximately yearly intervals to obtain longitudinal data. Participants in Sub-Study A may elect to send in medical records and samples only, or to come to the NIH for evaluations as outlined in Section 4. We anticipate that
• •participants in Sub-Study B will be seen mostly at NCL/CLN3-related family conferences.
• •Main Study:
• •Individuals \> 1 week of age with a diagnosis of CLN3 or a CLN3-related/other NCL-type condition. Diagnosis determined by one of the following:
• •1. Two CLN3 or NCL condition-appropriate genetic mutations
• •2. One CLN3 mutation AND
• •i) clinical presentation suggestive of CLN3, OR
• •ii) characteristic electron microscopy (EM) findings (such as curvilinear body, fingerprint profile, granular osmiophilic deposits).
• •Sub-Study A:
• •Individuals \> 1 week of age with a diagnosis of CLN3 or CLN3-related/other NCL-type condition. Diagnosis determined by one of the following:
• •1. Two CLN3 or condition-appropriate genetic mutations
• •2. One CLN3 mutation AND
• •i) clinical presentation suggestive of CLN3, OR
• •ii) characteristic electron microscopy (EM) findings (such as curvilinear body, fingerprint profile, granular osmiophilic deposits).
• •OR
• •Individuals \> 1 month of age who have family member(s) diagnosed with CLN3 or CLN3-related/other NCL-type condition.
• •Sub-Study B:
• •Individuals \> 1 week of age with a clinical diagnosis of CLN3 or NCL.
• •OR
• •Individuals \> 1 month of age who have family member(s) diagnosed with CLN3 or NCL.