Updates in Neuronal Ceroid Lipofuscinosis

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Presentation transcript:

Updates in Neuronal Ceroid Lipofuscinosis

Introduction

Genetics and Epidemiology

Clinical Presentation

Clinical Example

Diagnostic Algorithm

Diagnosis: EEG

Diagnosis: Ophthalmological Evaluations

EEG

EEG With IPS

Language Delay

Language Delay (cont)

Differential Diagnosis

Differential Diagnosis (cont)

Prognosis Over Time

CLN2: Effect on Family

Family Planning

Symptom Management: Nonpharmacologic

Symptom Management: Epilepsy

Symptom Management: Movement

Symptom Management: Psychopathological and Sleep

Multidisciplinary Care

Mechanism of Action for Future Therapies

Enzyme Replacement Therapy

Stem Cell Therapy

Gene Therapy

Gene Therapy (cont)

Conclusion

Abbreviations

Abbreviations (cont)

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