Amyotrophic lateral sclerosis-Primary lateral sclerosis panel

Amyotrophic lateral sclerosis / Primary lateral sclerosis panel

[28 genes]

TOURNAROUND TIME: 6 WEEKS

ALS2 ANG CCNF CHCHD10 CHMP2B DAO DCTN1 ERBB4 FIG4 FUS
HNRNPA1 MATR3 NEFH OPTN PFN1 PRPH SETX SIGMAR1 SLC52A2 SLC52A3
SOD1 SPG11 SQSTM1 TARDBP TBK1 UBQLN2 VAPB VCP
ALS2 ANG CCNF CHCHD10
CHMP2B DAO DCTN1 ERBB4
FIG4 FUS HNRNPA1 MATR3
NEFH OPTN PFN1 PRPH
SETX SIGMAR1 SLC52A2 SLC52A3
SOD1 SPG11 SQSTM1 TARDBP
TBK1 UBQLN2 VAPB VCP
RELATED PHENOTYPES
Amyotrophic lateral sclerosis with / without frontotemporal dementia CHCHD10, SQSTM1, TBK1
Primary lateral sclerosis ALS2, FIG4, SPG11, TBK1
Brown-Vialetto-Van Laere and Fazio-Londe syndrome SLC52A2, SLC52A3
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a prevalence of 5.4/100 000 (Chiò et al., 2013). Although most cases are sporadic, 10% of patients have a positive family history. Pathogenic variants in genes C9orf72, SOD1, TARDBP, and FUS explain almost two thirds of the familial forms (>25%, 20%, 5%, and 5% respectively). Only one genetic alteration has been identified in the C9orf72 gene. It consists of a GGGGCC hexanucleotide expansion, which is not detectable by next-generation-sequencing.
Primary lateral sclerosis (PLS) is characterized by the isolated involvement of the upper motor neuron, which distinguishes it from amyotrophic lateral sclerosis, in which involvement of the lower motor neuron also occurs. The diagnosis of PLS is reached by excluding other causes of disease such as spastic paraplegia, multiple sclerosis, metabolic disease, or myelopathy.

LOCI INCLUDED:
| ALS1 | ALS2 | ALS4 | ALS5 | ALS6 | ALS8 | ALS9 | ALS10 | ALS11 | ALS12 | ALS14 | ALS15 | ALS16 | ALS17 | ALS18 | ALS19 | ALS20 | ALS21 | FTDALS2 | FTDALS3 | FTDALS4 |

REFERENCES
  1. Chiò A, Logroscino G, Traynor BJ, Collins J, Simeone JC, Goldstein LA, White LA. Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature. Neuroepidemiology. 2013; 41(2):118-30.

 

PORTFOLIO NEUROLOGÍA


SOLICITUD DE ESTUDIO
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CONSENTIMIENTO INFORMADO
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CLASIFICACIÓN DE VARIANTES
Criterios de clasificación de variantes y utilidad clínica

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