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Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation

Autor: Małgorzata Stępień-Wojno, Dorota Rowczenio, Anna Kostera-Pruszczyk, Robert Petrovic, Joanna Brydak-Godowska, Jacek Grzybowski, Ján Chandoga, Marta Lipowska, Monika Gawor, Agnieszka Ptasińska-Perkowska, Hanna Drac, Philip N. Hawkins, Janusz Szewczuk, Maria Franaszczyk, Anetta Lasek-Bal, Renata Śmierciak, Janet A. Gilbertson

Publikováno v: Neurologia i neurochirurgia polska. 54(6)

Background. Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) is a rare, progressive, hereditary, highly disabling multisystem disorder. ATTR-FAP phenotypes differ according to the type of TTR mutation, geographic region and other as y

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fde596b492d1b50f293666118a4eef0c
https://pubmed.ncbi.nlm.nih.gov/33373035

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Original article Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome

Autor: Dagmara Kabzińska, Hanna Drac, Anna Potulska-Chromik, Beata Zakrzewska-Pniewska, Andrzej Kochański, Anna Kostera-Pruszczyk, Elena Sinkiewicz-Darol, Marek Gołębiowski

Publikováno v: Folia Neuropathologica. 4:369-374

Charcot-Marie-Tooth type 1C disease (CMT1C) is a rare form of hereditary demyelinating neuropathy caused by muta - tions in the LITAF (lipopolysaccharide-induced tumor necrosis factor- α) gene. CMT1C disease was mapped to chromosome 16p12-p 13.3. To

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0162fc082ff83faf364b482a7cd3bc6a
https://doi.org/10.5114/fn.2012.32366

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A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease

Autor: Dagmara Kabzińska, Hanna Drac, Andrzej Kochański, Irena Hausmanowa-Petrusewicz, Nina Huber, Ueli Suter, Axel Niemann, Anna Potulska-Chromik

Publikováno v: Neurogenetics

Charcot-Marie-Tooth disease (CMT) caused by mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene is characterized by a spectrum of phenotypes. Recurrent nonsense mutations (Q163X and S194X) showing regional distribut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aacc269d88ad26be8477d2ae7c98c59d

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Dysmyelinating and demyelinating Charcot–Marie–Tooth disease associated with two myelin protein zero gene mutations

Autor: Hanna Drac, Dagmara Kabzińska, Irena Hausmanowa-Petrusewicz, Halina Strugalska-Cynowska, Andrzej Kochański, Izabela Moszyńska

Publikováno v: Journal of Applied Genetics. 52:177-183

Mutations in the myelin protein zero (MPZ) gene are the third most frequent cause of hereditary motor and sensory neuropathies (HMSN), also called Charcot-Marie-Tooth disorders (CMT). Only in case of recurrent mutations occurring in the MPZ gene is i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a19d7055c27afccaa50aa898d35ee8bf
https://doi.org/10.1007/s13353-010-0003-3

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Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in theMPZ gene

Autor: Dagmara Kabzińska, Andrzej Kochański, Irena Hausmanowa-Petrusewicz, Teresa Korwin-Piotrowska, Hanna Drac, Hanna Drechsler

Publikováno v: American Journal of Medical Genetics Part A. :2196-2199

Charcot-Marie-Tooth disease (CMT) is a heterogenous group of disorders of peripheral nervous system with a prevalence of 1:2,500. The frequency of axonal form of Charcot-Marie-Tooth disease (CMT2) remains unknown. To date 17 loci in autosomal dominan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43356ee43e52abfb812d5216ee7f28df
https://doi.org/10.1002/ajmg.a.31908

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A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot–Marie–Tooth type 4 disease

Autor: Hanna Drac, Dagmara Kabzińska, Francesc Palau, Katarzyna Rowińska-Marcińska, Andrzej Kochański, Laia Pedrola, Barbara Ryniewicz, Irena Hausmanowa-Petrusewicz

Publikováno v: Journal of the Neurological Sciences. 241:7-11

Mutations in the gene coding for ganglioside-induced differentiation-associated protein-1 (GDAP1), which maps to chromosome 8q21, have been described in families with autosomal recessive Charcot-Marie-Tooth disease (CMT4A). Interestingly, some mutati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47e75d16df899ec425e2615f0dedfd87
https://doi.org/10.1016/j.jns.2005.10.002

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Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene

Autor: Katarzyna Rowińska-Marcińska, Barbara Ryniewicz, Andrzej Kochański, Dagmara Kabzińska, Irena Hausmanowa-Petrusewicz, Hanna Drac

Publikováno v: European Journal of Paediatric Neurology. 8:221-224

The spectrum of Charcot-Marie-Tooth (CMT) phenotypes segregating with mutations in the Myelin Protein Zero (MPZ) gene is wide and ranges from congenital hypomyelinating neuropathy (CHN) through demyelinating form of CMT to the axonal type of CMT dise

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dac61a43fcaef2921f9f2596263771ca
https://doi.org/10.1016/j.ejpn.2004.04.001

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Phenomenon of Schwann cell apoptosis in a case of congenital hypomyelinating neuropathy with basal lamina onion bulb formation

Autor: Janina Rafałowska, Anna Fidziańska, Hanna Drac

Publikováno v: Brain and Development. 24:727-731

We analyzed a sural nerve biopsy of a child with congenital hypomyelinating neuropathy. A lack of normally myelinated fibres, abnormal architecture of premyelin fibres and basal lamina onion bulbs were identified. The most prominent pathological find

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::621533788f496d44e6db0ffe326be3fb
https://doi.org/10.1016/s0387-7604(02)00081-5

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A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3)

Autor: Irena Hausmanowa-Petrusewicz, Andrzej Kochański, Dagmara Kabzińska, Barbara Ryniewicz, Hanna Drac, Maria Jędrzejowska

Publikováno v: Neuromuscular Disorders. 18:339-341

In the present study, we report a single Polish SMA family in which the 17p11.2–p12 duplication causative for the Charcot-Marie-Tooth type 1A disease (CMT1A) was found in addition to a deletion of exons 7 and 8 of the SMN1 gene. A patient harboring

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34e74cd3cea57bd7bd556a76e4fa8c3e
https://doi.org/10.1016/j.nmd.2008.02.001

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Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene

Autor: Hanna Drac, Diane L. Sherman, Dagmara Kabzińska, Andrzej Kochański, Peter J. Brophy, Anna Kostera-Pruszczyk, Irena Hausmanowa-Petrusewicz

Publikováno v: Neurology. 66:745-747

Charcot-Marie-Tooth type 4F disease (CMT4F) is an autosomal recessive neuropathy caused by mutations in the PRX gene. To date, only seven mutations have been identified in the PRX gene. In this study, the authors report a novel S399fsX410 mutation in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::517824767623d2ac37bf6116640c3464
https://doi.org/10.1212/01.wnl.0000201269.46071.35

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