Phenotype | Age of onset | Gene | Chromosome | Protein | Ultrastructure |
CLN1 | Infantile, but also late-infantile, juvenile, and adult | PPT1 | 1p32 | PPT1 | GRODS |
CLN2 | Late-infantile, but also juvenile | TPP1 | 11p15 | TPP1 | Curvilinear profiles |
CLN3 | Juvenile | CLN3 | 16p12 | Lysosomal transmembrane protein | Fingerprint profiles |
CLN4 | Adult (Parry) | DNAJC5 | 20q13.33 | Cysteine string protein | Rectilinear profiles |
CLN5 | Late-infantile (Finnish variant) | CLN5 | 13q22 | Soluble lysosomal protein | Rectilinear profiles, curvilinear profiles, fingerprint profiles |
CLN6 | Late-infantile, adult (Kufs type A) | CLN6 | 15q21 | Transmembrane protein of ER | Rectilinear profiles, curvilinear profiles, fingerprint profiles |
CLN7 | Late-infantile, Turkish variant | MFSD8 | 4q28 | MFSD8, lysosomal membrane protein | Fingerprint profiles |
CLN8 | Late-infantile, Northern epilepsy | CLN8 | 8q23 | Transmembrane protein of ER | Curvilinear profiles |
CLN9 | Proposed, but not confirmed | CLN9 | |||
CLN10 | Congenital, juvenile | CTSD | 11p15 | Cathepsin D | GRODS |
CLN11 | Adult | GRN | 17q21 | Progranulin | Fingerprint profiles |
CLN12 | Juvenile | ATP13A2 | 1p36 | Kufor-Rakeb syndrome | "Whorled lamellar inclusions" |
CLN13 | Adult (Kufs type B) | CTSF | 11q13 | Cathepsin F | Fingerprint profiles? |
CLN14 | Infantile | KCTD7 | 7q11 | Potassium channel tetramerization domain-containing protein 7 | Variable |
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