Motor neuropathy/SMN1-negative spinal muscular atrophy

Motor neuropathy /SMN1-negative spinal muscular atrophy panel

[30 genes]

TOURNAROUND TIME: 6 WEEKS

AARS ASAH1 BICD2 BSCL2 CHCHD10 DCTN1 DNAJB2 DYNC1H1 FBXO38 GARS
HARS HEXB HINT1 HSPB1 HSPB3 HSPB8 IGHMBP2 MFN2 MORC2 PLEKHG5
REEP1 SETX SIGMAR1 SLC52A2 SLC52A3 SLC5A7 TFG TRPV4 UBA1 VAPB
AARS ASAH1 BICD2 BSCL2
CHCHD10 DCTN1 DNAJB2 DYNC1H1
FBXO38 GARS HARS HEXB
HINT1 HSPB1 HSPB3 HSPB8
IGHMBP2 MFN2 MORC2 PLEKHG5
REEP1 SETX SIGMAR1 SLC52A2
SLC52A3 SLC5A7 TFG TRPV4
UBA1 VAPB
RELATED PHENOTYPES
Spinal muscular atrophy with progressive myoclonic epilepsy ASAH1
Spinal muscular atrophy with lower extremity predominance BICD2, DYNC1H1
X-linked spinal muscular atrophy UBA1
spinal muscular atrophy, Finkel type VAPB
Jokela-type spinal muscular atrophy CHCHD10
Juvenile amyotrophic lateral sclerosis SETX
GM2 gangliosidosis HEXB
Brown-Vialetto-Van Laere / Fazio-Londe syndrome SLC52A2, SLC52A3
Silver syndrome BSCL2
  • Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy is the most frequent inherited neuromuscular disease, with a prevalence of 1/2 500 individuals (Suter and Sherer, 2003).

    CMT is a complex disorder at the molecular level, with at least 1 000 genetic variants associated with about 80 genes (Timmerman et al., 2014). In the wide series described, molecular alteration is identified in 60%-70% of patients (80% of demyelinating forms and 25% of axonal forms) (Rossor et al., 2015). Approximately 90% of alterations are found in genes PMP22, MPZ, GJB1, and MFN2 (DiVicenzo et al., 2015), although this number varies among populations and is particularly reduced in regions with a high prevalence of recessive inheritance forms. 40%-50% of CMT cases are type 1 (CMT1, demyelinating form), of which 70-80% are caused by a duplication of a region of about 1.5 Mb in 17p12 containing the PMP22 gene (CMT1A).

    Hereditary motor neuropathy (HMN) comprises 10% of all hereditary neuropathies, with a diagnosis rate of 20%-32% (Bansagi et al., 2017).

    REFERENCES
    1. Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmüller H, Chinnery PF, Horvath R. Genetic heterogeneity of motor neuropathies. Neurology. 2017 Mar 28;88(13):1226-1234.
    2. DiVincenzo C, Elzinga CD, Medeiros AC, Karbassi I, Jones JR, Evans MC, Braastad CD, Bishop CM, Jaremko M, Wang Z, Liaquat K, Hoffman CA, York MD, Batish SD, Lupski JR, Higgins JJ. The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. Mol Genet Genomic Med. 2014 Nov;2(6):522-9.
    3. Rossor AM, Evans MR, Reilly MM. A practical approach to the genetic neuropathies. Pract Neurol. 2015 Jun;15(3):187-98.
    4. Suter U, Scherer SS. Disease mechanisms in inherited neuropathies. Nat Rev Neurosci. 2003 Sep;4(9):714-26. Review. PubMed PMID: 12951564.
    5. Timmerman V, Strickland AV, Züchner S. Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success. Genes (Basel). 2014 Jan 22;5(1):13-32.

 

NEUROLOGY PORTFOLIO


STUDY REQUEST
Select the panel you wish to request


INFORMED CONSENT
Required document in order to perform the study


VARIANT CLASSIFICATION
Variant classification and clinical usefulness criteria

Este sitio web utiliza cookies para que usted tenga la mejor experiencia de usuario. Si continúa navegando está dando su consentimiento para la aceptación de las mencionadas cookies y la aceptación de nuestra política de cookies, pinche el enlace para más información

Los ajustes de cookies de esta web están configurados para "permitir cookies" y así ofrecerte la mejor experiencia de navegación posible. Si sigues utilizando esta web sin cambiar tus ajustes de cookies o haces clic en "Aceptar" estarás dando tu consentimiento a esto.

Cerrar