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Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease

Shy, Michael ; Rebelo, Adriana P ; Feely, Shawna ME ; [et al.]

BMJ ; 2018

In: Journal of Neurology, Neurosurgery & Psychiatry Vol. 89, No. 3 ( 2018-03), p. 313-315

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In: Journal of Neurology, Neurosurgery & Psychiatry, BMJ, Vol. 89, No. 3 ( 2018-03), p. 313-315

Type of Medium: Online Resource

ISSN: 0022-3050 , 1468-330X

URL: Article

DOI: 10.1136/jnnp-2017-315929

RVK:

XA 10000

Language: English

Publisher: BMJ

Publication Date: 2018

detail.hit.zdb_id: 1480429-3

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Assessing non-Mendelian inheritance in inherited axonopathies

Bis-Brewer, Dana M. ; Gan-Or, Ziv ; Sleiman, Patrick ; [et al.]

Elsevier BV ; 2020

In: Genetics in Medicine Vol. 22, No. 12 ( 2020-12), p. 2114-2119

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In: Genetics in Medicine, Elsevier BV, Vol. 22, No. 12 ( 2020-12), p. 2114-2119

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1038/s41436-020-0924-0

Language: English

Publisher: Elsevier BV

Publication Date: 2020

detail.hit.zdb_id: 2063504-7

SSG: 12

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Diabetes mellitus exacerbates motor and sensory impairment in CMT1A

Sheth, Soham ; Francies, Kevin ; Siskind, Carly E. ; [et al.]

Wiley ; 2008

In: Journal of the Peripheral Nervous System Vol. 13, No. 4 ( 2008-12), p. 299-304

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In: Journal of the Peripheral Nervous System, Wiley, Vol. 13, No. 4 ( 2008-12), p. 299-304

Type of Medium: Online Resource

ISSN: 1085-9489 , 1529-8027

URL: Issue

URL: Article

DOI: 10.1111/jns.2009.13.issue-4

DOI: 10.1111/j.1529-8027.2008.00196.x

Language: English

Publisher: Wiley

Publication Date: 2008

detail.hit.zdb_id: 2030613-1

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Psychometrics evaluation of Charcot‐Marie‐Tooth Neuropathy Score ( CMTNSv2 ) second version, using Rasch analysis

Sadjadi, Reza ; Reilly, Mary M. ; Shy, Michael E. ; [et al.]

Wiley ; 2014

In: Journal of the Peripheral Nervous System Vol. 19, No. 3 ( 2014-09), p. 192-196

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In: Journal of the Peripheral Nervous System, Wiley, Vol. 19, No. 3 ( 2014-09), p. 192-196

Abstract: Charcot‐Marie‐Tooth Neuropathy Score second version ( CMTNSv2 ) is a validated clinical outcome measure developed for use in clinical trials to monitor disease impairment and progression in affected CMT patients. Currently, all items of CMTNSv2 have identical contribution to the total score. We used Rasch analysis to further explore psychometric properties of CMTNSv2 , and in particular, category response functioning, and their weight on the overall disease progression. Weighted category responses represent a more accurate estimate of actual values measuring disease severity and therefore could potentially be used in improving the current version. Copyright © 2014 John Wiley & Sons, Ltd.

Type of Medium: Online Resource

ISSN: 1085-9489 , 1529-8027

URL: Issue

URL: Article

DOI: 10.1111/jns.2014.19.issue-3

DOI: 10.1111/jns.12084

Language: English

Publisher: Wiley

Publication Date: 2014

detail.hit.zdb_id: 2030613-1

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Validation of the parent‐proxy pediatric Charcot‐Marie‐Tooth disease quality of life outcome measure

Wu, Tong Tong ; Finkel, Richard S. ; Siskind, Carly E. ; [et al.]

Wiley ; 2023

In: Journal of the Peripheral Nervous System Vol. 28, No. 2 ( 2023-06), p. 237-251

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In: Journal of the Peripheral Nervous System, Wiley, Vol. 28, No. 2 ( 2023-06), p. 237-251

Abstract: Charcot‐Marie‐Tooth disease (CMT) reduces health‐related quality of life (QOL) in children. We have previously developed and validated the English and Italian versions of the pediatric CMT‐specific QOL outcome measure (pCMT‐QOL) for children aged 8 to 18. There is currently no parent‐proxy CMT QOL outcome measure for use in clinical trials, which could provide complementary information in these children and adolescents. This study describes the validation studies conducted to develop the parent‐proxy version of the pCMT‐QOL outcome measure for children aged 8 to 18 years old. Development and validation of the parent‐proxy version of the pCMT‐QOL outcome measure for children aged 8 to 18 years old was iterative, involving identifying relevant domains, item pool generation, prospective pilot testing and clinical assessments, structured focus‐group interviews, and psychometric testing, conducted on parents of children with CMT seen at participating sites from the USA, United Kingdom, and Australia. We utilized previously described methods to develop a working parent‐proxy version of the pCMT‐QOL measure. From 2010 to 2016, the parent‐proxy pCMT‐QOL working version was administered to 358 parents of children with CMT aged 8 to 18, seen at the participating study sites of the Inherited Neuropathies Consortium. The resulting data underwent rigorous psychometric analysis, including factor analysis, test‐retest reliability, internal consistency, convergent validity, IRT analysis, and longitudinal analysis, to develop the final parent‐proxy version of the pCMT‐QOL outcome measure for children aged 8 to 18 years old. The parent‐proxy version of the pCMT‐QOL outcome measure is a reliable, valid, and sensitive proxy measure of health‐related QOL for children aged 8 to 18 with CMT.

Type of Medium: Online Resource

ISSN: 1085-9489 , 1529-8027

URL: Issue

URL: Article

DOI: 10.1111/jns.v28.2

DOI: 10.1111/jns.12538

Language: English

Publisher: Wiley

Publication Date: 2023

detail.hit.zdb_id: 2030613-1

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Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

Pipis, Menelaos ; Feely, Shawna M E ; Polke, James M ; [et al.]

Oxford University Press (OUP) ; 2020

In: Brain Vol. 143, No. 12 ( 2020-12-01), p. 3589-3602

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In: Brain, Oxford University Press (OUP), Vol. 143, No. 12 ( 2020-12-01), p. 3589-3602

Abstract: Mitofusin-2 (MFN2) is one of two ubiquitously expressed homologous proteins in eukaryote cells, playing a critical role in mitochondrial fusion. Mutations in MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth disease type 2A (CMT2A), the commonest axonal form of CMT, with significant allelic heterogeneity. Previous, moderately-sized, cross sectional genotype-phenotype studies of CMT2A have described the phenotypic spectrum of the disease, but longitudinal natural history studies are lacking. In this large multicentre prospective cohort study of 196 patients with dominant and autosomal recessive CMT2A, we present an in-depth genotype-phenotype study of the baseline characteristics of patients with CMT2A and longitudinal data (1–2 years) to describe the natural history. A childhood onset of autosomal dominant CMT2A is the most predictive marker of significant disease severity and is independent of the disease duration. When compared to adult onset autosomal dominant CMT2A, it is associated with significantly higher rates of use of ankle-foot orthoses, full-time use of wheelchair, dexterity difficulties and also has significantly higher CMT Examination Score (CMTESv2) and CMT Neuropathy Score (CMTNSv2) at initial assessment. Analysis of longitudinal data using the CMTESv2 and its Rasch-weighted counterpart, CMTESv2-R, show that over 1 year, the CMTESv2 increases significantly in autosomal dominant CMT2A (mean change 0.84 ± 2.42; two-tailed paired t-test P = 0.039). Furthermore, over 2 years both the CMTESv2 (mean change 0.97 ± 1.77; two-tailed paired t-test P = 0.003) and the CMTESv2-R (mean change 1.21 ± 2.52; two-tailed paired t-test P = 0.009) increase significantly with respective standardized response means of 0.55 and 0.48. In the paediatric CMT2A population (autosomal dominant and autosomal recessive CMT2A grouped together), the CMT Pediatric Scale increases significantly both over 1 year (mean change 2.24 ± 3.09; two-tailed paired t-test P = 0.009) and over 2 years (mean change 4.00 ± 3.79; two-tailed paired t-test P = 0.031) with respective standardized response means of 0.72 and 1.06. This cross-sectional and longitudinal study of the largest CMT2A cohort reported to date provides guidance for variant interpretation, informs prognosis and also provides natural history data that will guide clinical trial design.

Type of Medium: Online Resource

ISSN: 0006-8950 , 1460-2156

URL: Article

DOI: 10.1093/brain/awaa323

RVK:

XA 10000

Language: English

Publisher: Oxford University Press (OUP)

Publication Date: 2020

detail.hit.zdb_id: 1474117-9

SSG: 12

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A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement

Rebelo, Adriana P ; Cortese, Andrea ; Abraham, Amit ; [et al.]

Oxford University Press (OUP) ; 2021

In: Brain Vol. 144, No. 4 ( 2021-05-07), p. 1197-1213

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In: Brain, Oxford University Press (OUP), Vol. 144, No. 4 ( 2021-05-07), p. 1197-1213

Abstract: The CADM family of proteins consists of four neuronal specific adhesion molecules (CADM1, CADM2, CADM3 and CADM4) that mediate the direct contact and interaction between axons and glia. In the peripheral nerve, axon-Schwann cell interaction is essential for the structural organization of myelinated fibres and is primarily mediated by the binding of CADM3, expressed in axons, to CADM4, expressed by myelinating Schwann cells. We have identified—by whole exome sequencing—three unrelated families, including one de novo patient, with axonal Charcot-Marie-Tooth disease (CMT2) sharing the same private variant in CADM3, Tyr172Cys. This variant is absent in 230 000 control chromosomes from gnomAD and predicted to be pathogenic. Most CADM3 patients share a similar phenotype consisting of autosomal dominant CMT2 with marked upper limb involvement. High resolution mass spectrometry analysis detected a newly created disulphide bond in the mutant CADM3 potentially modifying the native protein conformation. Our data support a retention of the mutant protein in the endoplasmic reticulum and reduced cell surface expression in vitro. Stochastic optical reconstruction microscopy imaging revealed decreased co-localization of the mutant with CADM4 at intercellular contact sites. Mice carrying the corresponding human mutation (Cadm3Y170C) showed reduced expression of the mutant protein in axons. Cadm3Y170C mice showed normal nerve conduction and myelin morphology, but exhibited abnormal axonal organization, including abnormal distribution of Kv1.2 channels and Caspr along myelinated axons. Our findings indicate the involvement of abnormal axon-glia interaction as a disease-causing mechanism in CMT patients with CADM3 mutations.

Type of Medium: Online Resource

ISSN: 0006-8950 , 1460-2156

URL: Article

DOI: 10.1093/brain/awab019

RVK:

XA 10000

Language: English

Publisher: Oxford University Press (OUP)

Publication Date: 2021

detail.hit.zdb_id: 1474117-9

SSG: 12

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Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs

Rebelo, Adriana P ; Tomaselli, Pedro J ; Medina, Jessica ; [et al.]

Oxford University Press (OUP) ; 2023

In: Brain Vol. 146, No. 10 ( 2023-10-03), p. 4191-4199

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In: Brain, Oxford University Press (OUP), Vol. 146, No. 10 ( 2023-10-03), p. 4191-4199

Abstract: COQ7 encodes a hydroxylase responsible for the penultimate step of coenzyme Q10 (CoQ10) biosynthesis in mitochondria. CoQ10 is essential for multiple cellular functions, including mitochondrial oxidative phosphorylation, lipid metabolism, and reactive oxygen species homeostasis. Mutations in COQ7 have been previously associated with primary CoQ10 deficiency, a clinically heterogeneous multisystemic mitochondrial disorder. We identified COQ7 biallelic variants in nine families diagnosed with distal hereditary motor neuropathy with upper neuron involvement, expending the clinical phenotype associated with defects in this gene. A recurrent p.Met1? change was identified in five families from Brazil with evidence of a founder effect. Fibroblasts isolated from patients revealed a substantial depletion of COQ7 protein levels, indicating protein instability leading to loss of enzyme function. High-performance liquid chromatography assay showed that fibroblasts from patients had reduced levels of CoQ10, and abnormal accumulation of the biosynthetic precursor DMQ10. Accordingly, fibroblasts from patients displayed significantly decreased oxygen consumption rates in patients, suggesting mitochondrial respiration deficiency. Induced pluripotent stem cell-derived motor neurons from patient fibroblasts showed significantly increased levels of extracellular neurofilament light protein, indicating axonal degeneration. Our findings indicate a molecular pathway involving CoQ10 biosynthesis deficiency and mitochondrial dysfunction in patients with distal hereditary motor neuropathy. Further studies will be important to evaluate the potential benefits of CoQ10 supplementation in the clinical outcome of the disease.

Type of Medium: Online Resource

ISSN: 0006-8950 , 1460-2156

URL: Article

DOI: 10.1093/brain/awad158

RVK:

XA 10000

Language: English

Publisher: Oxford University Press (OUP)

Publication Date: 2023

detail.hit.zdb_id: 1474117-9

SSG: 12

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Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E

Pisciotta, Chiara ; Bai, Yunhong ; Brennan, Kathryn M. ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2015

In: Neurology Vol. 85, No. 3 ( 2015-07-21), p. 228-234

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In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 85, No. 3 ( 2015-07-21), p. 228-234

Type of Medium: Online Resource

ISSN: 0028-3878 , 1526-632X

URL: Article

DOI: 10.1212/WNL.0000000000001773

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XA 10000

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2015

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A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

Fridman, Vera ; Sillau, Stefan ; Acsadi, Gyula ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2020

In: Neurology Vol. 94, No. 9 ( 2020-03-03), p. e884-e896

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In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 94, No. 9 ( 2020-03-03), p. e884-e896

Abstract: To evaluate the sensitivity of Rasch analysis-based, weighted Charcot-Marie-Tooth Neuropathy and Examination Scores (CMTNS-R and CMTES-R) to clinical progression in patients with Charcot-Marie-Tooth disease type 1A (CMT1A). Methods Patients with CMT1A from 18 sites of the Inherited Neuropathies Consortium were evaluated between 2009 and 2018. Weighted CMTNS and CMTES modified category responses were developed with Rasch analysis of the standard scores. Change from baseline for CMTNS-R and CMTES-R was estimated with longitudinal regression models. Results Baseline CMTNS-R and CMTES-R scores were available for 517 and 1,177 participants, respectively. Mean ± SD age of participants with available CMTES-R scores was 41 ± 18 (range 4–87) years, and 56% were female. Follow-up CMTES-R assessments at 1, 2, and 3 years were available for 377, 321, and 244 patients. A mixed regression model showed significant change in CMTES-R score at years 2 through 6 compared to baseline (mean change from baseline 0.59 points at 2 years, p = 0.0004, n = 321). Compared to the original CMTES, the CMTES-R revealed a 55% improvement in the standardized response mean (mean change/SD change) at 2 years (0.17 vs 0.11). Change in CMTES-R at 2 years was greatest in mildly to moderately affected patients (1.48-point mean change, 95% confidence interval 0.99–1.97, p 〈 0.0001, for baseline CMTES-R score 0–9). Conclusion The CMTES-R demonstrates change over time in patients with CMT1A and is more sensitive than the original CMTES. The CMTES-R was most sensitive to change in patients with mild to moderate baseline disease severity and failed to capture progression in patients with severe CMT1A. ClinicalTrials.gov identifier NCT01193075.

Type of Medium: Online Resource

ISSN: 0028-3878 , 1526-632X

URL: Article

DOI: 10.1212/WNL.0000000000009035

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XA 10000

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2020

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