Phenotypic variability of childhood Charcot-Marie-Tooth disease

JAMA Neurology

Volumn 73, Issue 6, 2016, Pages 645-651

  Cornett, Kayla M D ^a   Menezes, Manoj P ^a   Bray, Paula ^a   Halaki, Mark ^a   Shy, Rosemary R ^b   Yum, Sabrina W ^c,d   Estilow, Timothy ^c   Moroni, Isabella ^e   Foscan, Maria ^e   Pagliano, Emanuela ^e   Pareyson, Davide ^e   Laurá, Matilde ^f,l   Bhandari, Trupti ^g   Muntoni, Francesco ^g,m   Reilly, Mary M ^f,l   Finkel, Richard S ^h   Sowden, Janet ⁱ   Eichinger, Katy J ⁱ   Herrmann, David N ⁱ   Shy, Michael E ^b,j   Burns, Joshua ^a   Scherer, Steven ^k   Züchner, Stephan ⁿ   Saporta, Mario ⁿ   Lloyd, Thomas ^o   Li, Jun ^p   Weiss, Michael D ^q   Fischbeck, Kenneth ^r   Day, John ^s   Baloh, Robert ^t   Lewis, Richard A ^t   Fridman, Vera ^u   Ramchandren, Sindhu ^v   Walk, David ^w   Johnson, Nicholas ^x   Acsadi, Gyula ^y   Baets, Jonathan ^z   Krischer, Jeffery ^aa   more..

^a UNIVERSITY OF SYDNEY   (Australia)

^b UNIVERSITY OF IOWA   (United States)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h NEMOURS CHILDREN S HOSPITAL   (United States)

ⁱ UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^j UNIVERSITY OF IOWA HEALTH CARE   (United States)

^k UNIVERSITY OF PENNSYLVANIA   (United States)

^l NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^m Dubowitz Neuromuscular Centre   (United Kingdom)

ⁿ UNIVERSITY OF MIAMI   (United States)

^o JOHNS HOPKINS UNIVERSITY   (United States)

^p VANDERBILT UNIVERSITY   (United States)

^q UNIVERSITY OF WASHINGTON   (United States)

^r NATIONAL INSTITUTES OF HEALTH   (United States)

^s STANFORD UNIVERSITY   (United States)

^t CEDARS SINAI MEDICAL CENTER   (United States)

^u HARVARD UNIVERSITY   (United States)

^v UNIVERSITY OF MICHIGAN   (United States)

^w UNIVERSITY OF MINNESOTA   (United States)

^x UNIVERSITY OF UTAH   (United States)

^y UNIVERSITY OF CONNECTICUT   (United States)

^z UNIVERSITY OF ANTWERP   (Belgium)

^aa UNIVERSITY OF SOUTH FLORIDA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACHILLES REFLEX; ADOLESCENCE; ADOLESCENT; ADULT; AGE; ARM WEAKNESS; ARTICLE; BODY EQUILIBRIUM; BODY HEIGHT; CHARCOT MARIE TOOTH DISEASE PEDIATRIC SCALE; CHILD; CHILDHOOD; COHORT ANALYSIS; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DISEASE SEVERITY; FEMALE; FOOT PAIN; GENOTYPE; GRIP STRENGTH; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOTOR PERFORMANCE; NEUROLOGIC DISEASE ASSESSMENT; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SELF REPORT; SENSATION; AUSTRALIA; CHARCOT-MARIE-TOOTH DISEASE; CLASSIFICATION; CLINICAL TRIAL; GENETICS; ITALY; MULTICENTER STUDY; PATHOPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD; RETROSPECTIVE STUDY; SEVERITY OF ILLNESS INDEX; UNITED KINGDOM; UNITED STATES; YOUNG ADULT;

ADOLESCENT; AUSTRALIA; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; FEMALE; HUMANS; ITALY; MALE; PHENOTYPE; RETROSPECTIVE STUDIES; SEVERITY OF ILLNESS INDEX; UNITED KINGDOM; UNITED STATES; YOUNG ADULT;

EID: 84974625024     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2016.0171     Document Type: Article

References (16)

1. Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet. 1974;6 (2):98-118.
2. Rossor AM, Polke JM, Houlden H, Reilly MM. Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol. 2013; 9(10):562-571.
3. Burns J, Ouvrier R, Estilow T, et al. Validation of the Charcot-Marie-Tooth disease Pediatric Scale as an outcome measure of disability. Ann Neurol. 2012; 71(5):642-652.
4. Fridman V, Bundy B, Reilly MM, et al; Inherited Neuropathies Consortium. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. J Neurol Neurosurg Psychiatry. 2015;86(8):873-878.
5. Gonzaga-Jauregui C, Harel T, Gambin T, et al; Baylor-Hopkins Center for Mendelian Genomics. Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy. Cell Rep. 2015;12(7):1169-1183.
6. Feely SM, LauraM, Siskind CE, et al. MFN2 mutations cause severe phenotypes in most patients with CMT2A. Neurology. 2011;76(20): 1690-1696.
7. Varley TL, Bourque PR, Baker SK. Phenotypic variability of CMT4C in a French-Canadian kindred. Muscle Nerve. 2015;52(3):444-449.
8. Sanmaneechai O, Feely S, Scherer SS, et al; Inherited Neuropathies Consortium-Rare Disease Clinical Research Consortium (INC-RDCRC). Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. Brain. 2015;138(Pt 11): 3180-3192.
9. Redmond AC, Crosbie J, Ouvrier RA. Development and validation of a novel rating system for scoring standing foot posture: the Foot Posture Index. Clin Biomech (Bristol, Avon). 2006;21(1):89-98.
10. Bennell KL, Khan KM, Matthews BL, Singleton C. Changes in hip and ankle range of motion and hip muscle strength in 8-11 year old novice female ballet dancers and controls: a 12 month follow up study. Br J Sports Med. 2001;35(1):54-59.
11. Bruininks RH, Bruininks BD. Bruininks-Oseretsky Test of Motor Proficiency. 2nd ed. Minneapolis, MN: NCS Pearson; 2005.
12. Redmond AC, Crane YZ, Menz HB. Normative values for the foot posture index. J Foot Ankle Res. 2008;1(1):6.
13. Burns J, Menezes M, Finkel RS, et al. Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2013;18(2):177-180.
14. Shy ME, Siskind C, Swan ER, et al. CMT1X phenotypes represent loss of GJB1 gene function. Neurology. 2007;68(11):849-855.
15. Lencioni T, Piscosquito G, RabuffettiM, et al. The influence of somatosensory and muscular deficits on postural stabilization: insights from an instrumented analysis of subjects affected by different types of Charcot-Marie-Tooth disease. Neuromuscul Disord. 2015;25(8):640-645.
16. Burns J, Bray P, Cross LA, North KN, Ryan MM, Ouvrier RA. Hand involvement in children with Charcot-Marie-Tooth disease type 1A. Neuromuscul Disord. 2008;18(12):970-973.