Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).
The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005).
For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).
- Anxiety
- Dysarthria
- Glaucoma
- Macular degeneration
- Myoclonus
- Optic atrophy
- Psychosis
- Retinal degeneration
- Seizure
- Cataract
- Abnormality of extrapyramidal motor function
- Reduced visual acuity
- Cerebral atrophy
- Concentric hypertrophic cardiomyopathy
- Parkinsonism
- Blindness
- Bilateral tonic-clonic seizure
- Dementia
- Psychomotor deterioration
- Loss of ambulation
- Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
- Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
- Vacuolated lymphocytes
- Progressive visual loss
- Undetectable electroretinogram
- Increased extraneuronal autofluorescent lipopigment
- Abnormal cerebellum morphology
- Intellectual disability
- Increased neuronal autofluorescent lipopigment
- Rod-cone dystrophy
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Autosomal recessive inheritance
Not provided
This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.
Citations
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