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- W1488797906 abstract "Publisher Summary This chapter reviews genetic counseling for the neuronal ceroid lipofuscinoses (NCLs). The NCLs, commonly known as Batten disease, are the most frequent neurodegenerative disorders of childhood. In the past, their diagnosis was based entirely on clinical and pathological findings. Today, advances in our understanding of these disorders on a biochemical and molecular level has led to definitive testing suitable for diagnosis of affected individuals, presymptomatic diagnosis, and carrier identification. All of the NCLs are inherited in an autosomal recessive manner with the exception of a very rare adult type—MIM163350, Parry disease—that is dominant. While four discrete clinical syndromes were initially defined, based on the age of onset and pathology, it has been clear for many years that there is genetic heterogeneity in the NCLs. This heterogeneity is due to both different genetic loci and multiple mutations within each specific locus. Diagnostic confirmation is critical to genetic counseling. The genetic counselor needs to address many psychosocial issues, some of them are common to families of handicapped children in general and some that relate to the progressive nature of the diseases. The risk of recurrence, including carrier testing issues and reproductive options, are explained." @default.
- W1488797906 created "2016-06-24" @default.
- W1488797906 creator A5034690015 @default.
- W1488797906 date "2001-01-01" @default.
- W1488797906 modified "2023-09-23" @default.
- W1488797906 title "8 Genetic counseling in the neuronal ceroid lipofuscinoses" @default.
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- W1488797906 doi "https://doi.org/10.1016/s0065-2660(01)45009-7" @default.
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