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Literature DB >> 12790899

Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama.

Jorge G Burneo¹, Thomas Arnold, Cheryl A Palmer, Ruben I Kuzniecky, Shin J Oh, Edward Faught.

Abstract

Entities: Disease Mutation

Mesh：

Year: 2003 PMID： 12790899 DOI： 10.1046/j.1528-1157.2003.39802.x

Source DB: PubMed Journal: Epilepsia ISSN： 0013-9580 Impact factor: 5.864

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10 in total

1. Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

Authors: Samuel F Berkovic; John F Staropoli; Stirling Carpenter; Karen L Oliver; Stanislav Kmoch; Glenn W Anderson; John A Damiano; Michael S Hildebrand; Katherine B Sims; Susan L Cotman; Melanie Bahlo; Katherine R Smith; Maxime Cadieux-Dion; Patrick Cossette; Ivana Jedličková; Anna Přistoupilová; Sara E Mole
Journal: Neurology Date: 2016-07-13 Impact factor: 9.910

2. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

Authors: Lenka Nosková; Viktor Stránecký; Hana Hartmannová; Anna Přistoupilová; Veronika Barešová; Robert Ivánek; Helena Hůlková; Helena Jahnová; Julie van der Zee; John F Staropoli; Katherine B Sims; Jaana Tyynelä; Christine Van Broeckhoven; Peter C G Nijssen; Sara E Mole; Milan Elleder; Stanislav Kmoch
Journal: Am J Hum Genet Date: 2011-08-04 Impact factor: 11.025

Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama.

1. Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

2. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

Review 3. Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.

Review 4. Therapeutic landscape for Batten disease: current treatments and future prospects.

5. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.

Review 6. DNAJC proteins and pathways to parkinsonism.

7. Adult onset familial cherry-red spot myoclonus.

Review 8. DnaJ/Hsp40 Family and Parkinson's Disease.

9. A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism.

Review 10. Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.