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Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry.
Pisciotta C, Bertini A, Tramacere I, Manganelli F, Fabrizi GM, Schenone A, Tozza S, Cavallaro T, Taioli F, Ferrarini M, Grandis M, Bellone E, Mandich P, Previtali SC, Falzone Y, Allegri I, Padua L, Pazzaglia C, Quattrone A, Valentino P, Gentile L, Russo M, Calabrese D, Moroni I, Pagliano E, Saveri P, Magri S, Baratta S, Taroni F, Mazzeo A, Santoro L, Vita G, Pareyson D; Italian CMT Network. Pisciotta C, et al. Eur J Neurol. 2023 Aug;30(8):2461-2470. doi: 10.1111/ene.15860. Epub 2023 May 26. Eur J Neurol. 2023. PMID: 37170966
METHODS: The Italian CMT Registry is a dual registry where the patient registers and chooses a reference center where the attending clinician collects a minimal dataset of information and administers the Charcot-Marie-Tooth (CMT) Examination/Neuropathy Score. Entered data …
METHODS: The Italian CMT Registry is a dual registry where the patient registers and chooses a reference center where the attending clinicia …
Audiological Findings in Charcot-Marie-Tooth Disease Type 4C.
Sivera R, Cavalle L, Vílchez JJ, Espinós C, Pérez Garrigues H, Sevilla T. Sivera R, et al. J Int Adv Otol. 2017 Apr;13(1):93-99. doi: 10.5152/iao.2017.3379. J Int Adv Otol. 2017. PMID: 28555600 Free article.
OBJECTIVE: Charcot-Marie-Tooth disease type 4C (CMT4C) is a hereditary demyelinating early onset neuropathy with prominent unsteadiness and occasional cranial nerve involvement. ...
OBJECTIVE: Charcot-Marie-Tooth disease type 4C (CMT4C) is a hereditary demyelinating early onset n …
Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.
Brewer MH, Ma KH, Beecham GW, Gopinath C, Baas F, Choi BO, Reilly MM, Shy ME, Züchner S, Svaren J, Antonellis A. Brewer MH, et al. Hum Mol Genet. 2014 Oct 1;23(19):5171-87. doi: 10.1093/hmg/ddu240. Epub 2014 May 15. Hum Mol Genet. 2014. PMID: 24833716 Free PMC article.
The downstream enhancer harbors a single-nucleotide polymorphism (SNP) that causes an 80% reduction in enhancer activity. The SNP resides directly within a predicted binding site for the transcription factor cAMP response element binding protein (CREB), and we demonstrate …
The downstream enhancer harbors a single-nucleotide polymorphism (SNP) that causes an 80% reduction in enhancer activity. The SNP resides di …
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
Piscosquito G, Saveri P, Magri S, Ciano C, Gandioli C, Morbin M, Bella DD, Moroni I, Taroni F, Pareyson D. Piscosquito G, et al. J Peripher Nerv Syst. 2016 Sep;21(3):142-9. doi: 10.1111/jns.12175. J Peripher Nerv Syst. 2016. PMID: 27231023 Free PMC article.
Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive (AR) demyelinating neuropathy associated to SH3TC2 mutations, characterized by early onset, spine deformities, and cranial nerve involvement. ...We found six mutations: …
Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive (AR) demyelinating neuropath …
Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum.
Kontogeorgiou Z, Nikolaou K, Kartanou C, Breza M, Panas M, Karadima G, Koutsis G. Kontogeorgiou Z, et al. J Peripher Nerv Syst. 2019 Mar;24(1):125-130. doi: 10.1111/jns.12305. Epub 2019 Feb 6. J Peripher Nerv Syst. 2019. PMID: 30653784
Although most cases had early onset and spine deformities were almost omnipresent, a wide phenotypic spectrum was observed. Particularly notable were two siblings with Roussy-Levy syndrome and one patient with young-onset trigeminal neuralgia. ...
Although most cases had early onset and spine deformities were almost omnipresent, a wide phenotypic spectrum was observed. Particula …
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Müller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schöneborn S, Züchner S, Michael Schröder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Büttner R, Nelis E, Zerres K. Senderek J, et al. Am J Hum Genet. 2003 Nov;73(5):1106-19. doi: 10.1086/379525. Epub 2003 Oct 21. Am J Hum Genet. 2003. PMID: 14574644 Free PMC article.
Charcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a distinct Schwann cell pathology. ...We subsequently identified m …
Charcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of hereditary …
Late Onset of Severe Demyelinating Peripheral Neuropathy in a 62-Year-Old African American Woman.
Zivkovic SA, DiCapua D. Zivkovic SA, et al. J Clin Neuromuscul Dis. 2024 Mar 1;25(3):152-156. doi: 10.1097/CND.0000000000000481. J Clin Neuromuscul Dis. 2024. PMID: 38441936
On examination, the patient had both distal and proximal weakness with distal sensory loss to all modalities and hyporeflexia. Charcot Marie Tooth Examination Score was 12. Previous electrodiagnostic testing at the age 60 years showed severe sensorimotor demyelinating poly …
On examination, the patient had both distal and proximal weakness with distal sensory loss to all modalities and hyporeflexia. Charcot Marie …