Pearls & Oy-sters: Levodopa-Responsive Adult NCL (Type B Kufs Disease) Due to CLN6 Mutation

Autor: Ajith Cherian, Syam Krishnan, K P Divya, Naveen Kumar Paramasivan

Publikováno v: Neurology. 96:e2662-e2665

Kufs disease (KD), adult neuronal ceroid lipofuscinosis (NCL), differs from its common childhood forms by its late onset and preserved vision and is subclassified based on phenotype as type A, manifesting as progressive myoclonus epilepsy (PME), and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::88fb3e0a5c8fbb2bd7fec271756835ce
https://doi.org/10.1212/wnl.0000000000011997

Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations – A previously unreported association

Autor: Clinda Puvirajasinghe, Sanjay M. Sisodiya, Fergus J. Rugg-Gunn, Priyanka Singh, Jamie Talbot

Publikováno v: Epilepsy & Behavior Reports
Epilepsy & Behavior Reports, Vol 14, Iss, Pp 100389-(2020)

The neuronal ceroid lipofuscinoses (NCL) are a collection of lysosomal storage diseases characterised by the accumulation of characteristic inclusions containing lipofuscin in various tissues of the body and are one of the causes of progressive myocl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac916c084eacdaec683cd776564b1032
http://europepmc.org/articles/PMC7528204

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

Autor: Berkovic, Samuel F, Staropoli, John F., Carpenter, Stirling, Oliver, Karen L., Kmoch, Stanislav, Anderson, Glenn W., Damiano, John A., Hildebrand, Michael S., Sims, Katherine B., Cotman, Susan L., Bahlo, Melanie, Smith, Katherine R., Cadieux Dion, Maxime, Cossette, Patrick, Jedličková, Ivana, Přistoupilová, Anna, Mole, Sara E. ANCL Gene Discovery Consortium […, BISULLI, FRANCESCA, LICCHETTA, LAURA, TINUPER, PAOLO

Publikováno v: Neurology, 87(6), 579-584. LIPPINCOTT WILLIAMS & WILKINS

Objective: To critically re-evaluate cases diagnosed as adult neuronal ceroid lipofuscinosis (ANCL) in order to aid clinicopathologic diagnosis as a route to further gene discovery.Methods: Through establishment of an international consortium we pool

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f11ed9474b421a15ad52978ca912506a
http://hdl.handle.net/11585/564199

Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature

Autor: Umberto Aguglia, Vittoria Cianci, Aldo Quattrone, Damiano Branca, Angelo Labate, Edoardo Ferlazzo, Gianandrea Pasquinelli, Sara Gasparini, Antonio Gambardella, Vito Sofia

Publikováno v: European journal of neurology
19 (2012): 1331–1336.
info:cnr-pdr/source/autori:Ferlazzo E, Gasparini S, Pasquinelli G, Labate A, Gambardella A, Sofia V, Cianci V, Branca D, Quattrone A, Aguglia U./titolo:Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature./doi:/rivista:European journal of neurology (Print)/anno:2012/pagina_da:1331/pagina_a:1336/intervallo_pagine:1331–1336/volume:19

Background and purpose Rectal biopsy is usually performed for in vivo diagnosis of Kufs disease (KD). We evaluated the usefulness of rectal biopsy in the diagnosis of such condition by comparing ultrastructural data of patients with suspicion of KD w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a50bd9ee182849e30221b549de9630c
http://hdl.handle.net/11585/139817

Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile form

Autor: Chris Kay

Publikováno v: Clinical Genetics. 80:505-506

The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been identified. Diagnosis of Kufs disease is difficult because the characteristic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbf4fecfb001aef381d0d69682013d3d
https://doi.org/10.1111/j.1399-0004.2011.01761.x