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Genotype-phenotype analyses of classic neuronal ceroid lipofuscinosis (NCLs): genetic predictions from clinical and pathological findings Ju W; Wronska A; Moroziewicz DN; Zhong R; Wisniewski N; Jurkiewicz A; Fiory M; Wisniewski KE; Johnston L; Brown WT; Zhong NBeijing Da Xue Xue Bao Yi Xue Ban 2006[Feb]; 38 (1): 41-8OBJECTIVE: Genotype-phenotype associations were studied in 517 subjects clinically affected by classical neuronal ceroid lipofuscinosis (NCL). METHODS: Genetic loci CLN1-3 were analyzed in regard to age of onset, initial neurological symptoms, and electron microscope (EM) profiles. RESULTS: The most common initial symptom leading to a clinical evaluation was developmental delay (30%) in NCL1, seizures (42.4%) in NCL2, and vision problems (53.5%) in NCL3. Eighty-two percent of NCL1 cases had granular osmiophilic deposits (GRODs) or mixed-GROD-containing EM profiles; 94% of NCL2 cases had curvilinear (CV) or mixed-CV-containing profiles; and 91% of NCL3 had fingerprint (FP) or mixed-FP-containing profiles. The mixed-type EM profile was found in approximately one-third of the NCL cases. DNA mutations within a specific CLN gene were further correlated with NCL phenotypes. Seizures were noticed to associate with common mutations 523G>A and 636C>T of CLN2 in NCL2 but not with common mutations 223G>A and 451C>T of CLN1 in NCL1. Vision loss was the initial symptom in all types of mutations in NCL3. Surprisingly, our data showed that the age of onset was atypical in 51.3% of NCL1 (infantile form) cases, 19.7% of NCL2 (late-infantile form) cases, and 42.8% of NCL3 (juvenile form) cases. CONCLUSION: Our data provide an overall picture regarding the clinical recognition of classical childhood NCLs. This may assist in the prediction and genetic identification of NCL1-3 via their characteristic clinical features.|*Genetic Association Studies[MESH]|Age of Onset[MESH]|Aminopeptidases/genetics[MESH]|Cytoplasmic Granules[MESH]|Dipeptidyl-Peptidases and Tripeptidyl-Peptidases/genetics[MESH]|Genotype[MESH]|Humans[MESH]|Membrane Glycoproteins/genetics[MESH]|Membrane Proteins/genetics[MESH]|Molecular Chaperones/genetics[MESH]|Mutation[MESH]|Neuronal Ceroid-Lipofuscinoses/*genetics/pathology[MESH]|Pedigree[MESH]|Phenotype[MESH]|Serine Proteases/genetics[MESH]|Thiolester Hydrolases[MESH]|Tripeptidyl-Peptidase 1[MESH] |
