Multifocal motor neuropathy / SMN1-negative spinal muscular atrophy [38 genes]

Charcot-Marie-Tooth (CMT) disease, or sensorimotor neuropathy, is the most frequent hereditary neuromuscular disease, with a prevalence of 1/2,500 individuals (Suter and Sherer, 2003).

At the molecular level, CMT is a complex disorder, with at least 1,000 associated genetic variants in some 80 genes (Timmerman et al., 2014). In some wide described series, molecular alteration is identified in 60-70% of patients (80% of the demyelinating forms and 25% of the axonal forms) (Rossor et al., 2015). Approximately 90% of abnormalities are distributed in the PMP22, MPZ, GJB1, and MFN2 genes (DiVicenzo et al., 2015), although this value varies between populations, being particularly lower in regions with a high prevalence of recessive hereditary forms. Forty to fifty percent of CMT cases are demyelinating or type 1 (CMT1), of which 70-80% are caused by the duplication of a region of approximately 1,5 Mb which contains 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).

  • ASAH1: Spinal muscular atrophy with progressive myoclonic epilepsy
  • BICD2, DYNC1H1: Spinal muscular atrophy predominantly in lower limbs
  • BSCL2: Silver syndrome
  • CHCHD10: Spinal muscular atrophy, Jokela type
  • HEXB: GM2 gangliosidosis
  • SETX: Juvenile amyotrophic lateral sclerosis
  • SLC52A2, SLC52A3: Brown-Vialetto-Van Laere / Fazio-Londe syndrome
  • UBA1: X-linked spinal muscular atrophy
  • VAPB: Spinal muscular atrophy, Finkel type

Request study Informed consent
Steps to follow
Steps to follow

How to order

1. Download & fill out

Please cover as many fields as possible in both documents

2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

Please pack the sample in a way to prevent leakage

4. Send the sample & the request

Please schedule the delivery for Monday–Friday: 8am – 5pm

5. Result: the report

Via: e-mail and/or through the customer portal

Ask for information
Solicita información de

Multifocal motor neuropathy / SMN1-negative spinal muscular atrophy

"*" indicates required fields

Consentimiento*
This field is for validation purposes and should be left unchanged.
Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202008639

Multifocal motor neuropathy / SMN1-negative spinal muscular atrophy: View panel
  • AARS
  • AGTPBP1
  • ASAH1
  • ATP7A
  • BICD2
  • BSCL2
  • CHCHD10
  • DCTN1
  • DNAJB2
  • DYNC1H1
  • FBXO38
  • GARS
  • GSN
  • HARS
  • HEXB
  • HINT1
  • HSPB1
  • HSPB3
  • HSPB8
  • IGHMBP2
  • MFN2
  • MORC2
  • PLEKHG5
  • REEP1
  • SETX
  • SIGMAR1
  • SLC52A2
  • SLC52A3
  • SLC5A7
  • SPTAN1
  • SYT2
  • TFG
  • TRIP4
  • TRPV4
  • UBA1
  • VAPB
  • VRK1
  • WARS

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Related panels
Hereditary neuropathies [150 genes]

References

  • 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.
  • 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.
  • Rossor AM, Evans MR, Reilly MM. A practical approach to the genetic neuropathies. Pract Neurol. 2015 Jun;15(3):187-98.
  • Suter U, Scherer SS. Disease mechanisms in inherited neuropathies. Nat Rev Neurosci. 2003 Sep;4(9):714-26.
  • 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.