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Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations.

Abstract：

:This study describes the phenotype/genotype analyses of 56 probands with a juvenile onset, some of which had atypical features of neuronal ceroid lipofuscinosis, collected at the New York State Institute for Basic Research (IBR). In this group, we found probands with abundant curvilinear profiles in lysosomal storage material, deficiency of pepstatin-insensitive peptidase, and mutations in the CLN2 gene, as well as patients with a predominance of granular osmiophilic deposits in the lysosomal storage material, deficiency of palmitoyl-protein thioesterase, and mutations in the CLN1 gene. We have divided the probands into two categories: typical (or classic) and atypical. Most of the typical and atypical probands had onset of symptoms about or after 4 years of age. Interfamiliar and intrafamiliar variations were found, especially in the speed of becoming practically blind. Thus, our study indicates that some mutations in the CLN1, CLN2, and CLN3 genes may be associated with late onset of the disease process, may have a more benign clinical course, and clinic overlap with other forms of neuronal ceroid lipofuscinosis.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Wisniewski KE,Kaczmarski A,Kida E,Connell F,Kaczmarski W,Michalewski MP,Moroziewicz DN,Zhong N

doi

10.1006/mgme.1999.2814

subject

Has Abstract

pub_date

1999-04-01 00:00:00

pages

248-52

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(99)92814-7

journal_volume

66

pub_type

杂志文章

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