La esclerosis lateral amiotrófica (ELA) es la enfermedad degenerativa más común del sistema de neuronas motoras. Se caracteriza por la pérdida progresiva de neuronas motoras en el cerebro y la médula espinal, lo que conduce a la parálisis. Comienza de manera insidiosa con una debilidad focal, pero se extiende sin cesar hasta afectar a la mayoría de los músculos, incluido el diafragma. El diagnóstico de ELA se basa en una historia de debilidad progresiva indolora junto con hallazgos en el examen de disfunción motora superior e inferior. Por lo general, la muerte se debe a una parálisis respiratoria y ocurre dentro de los 3 a 5 años posteriores al diagnóstico. Muchos genes y procesos fisiopatológicos diferentes contribuyen a la enfermedad, más aún, hay dos tipos de ELA diferenciados por la genética: familiar y esporádica. Aunque la ELA es incurable y mortal, con una mediana de supervivencia de 3 años, el tratamiento temprano puede alargar y aumentar sustancialmente la calidad de vida de los pacientes.
El panel de precisión de esclerosis lateral amiotrófica de Igenomix puede servir como una herramienta de diagnóstico precisa y dirigida que, en última instancia, conduce a un mejor manejo y pronóstico de la enfermedad. Proporciona un análisis completo de los genes involucrados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes involucrados.
La utilidad clínica de este panel es:
|
GENE |
OMIM DISEASES |
INHERITANCE* |
% GENE COVERAGE (20X) |
HGMD** |
|
ALS2 |
Amyotrophic Lateral Sclerosis, |
AR |
99.09 |
83 of 83 |
|
ANG |
Amyotrophic Lateral |
AD |
– |
– |
|
ANXA11 |
Amyotrophic Lateral |
AD |
99.91 |
15 of 15 |
|
ATL1 |
Neuropathy, Spastic |
AD |
100 |
93 of 93 |
|
ATXN2 |
Parkinson Disease, |
AD |
91.78 |
9 of 10 |
|
BSCL2 |
Encephalopathy, |
AD,AR |
99.83 |
60 of 61 |
|
C9ORF72 |
Amyotrophic Lateral |
AD |
– |
– |
|
CCNF |
Amyotrophic Lateral |
– |
99.11 |
22 of 23 |
|
CFAP410 |
Retinal Dystrophy, |
AR |
– |
– |
|
CHCHD10 |
Frontotemporal Dementia, |
AD |
95.3 |
22 of 30 |
|
CHMP2B |
Amyotrophic Lateral |
AD |
99.99 |
22 of 22 |
|
DAO |
Amyotrophic Lateral |
– |
100 |
12 of 12 |
|
DCTN1 |
Amyotrophic Lateral |
AD,AR |
100 |
56 of 56 |
|
EPHA4 |
Amyotrophic |
– |
99.98 |
5 of 5 |
|
ERBB4 |
Amyotrophic |
AD |
100 |
13 of 14 |
|
FIG4 |
Amyotrophic Lateral |
AD,AR |
99.92 |
72 of 72 |
|
FUS |
Amyotrophic Lateral |
AD |
100 |
117 of 117 |
|
GBE1 |
Glycogen Storage |
AR |
99.95 |
71 of 74 |
|
GLE1 |
Congenital Arthrogryposis, |
AR |
100 |
17 of 17 |
|
GLT8D1 |
Amyotrophic |
– |
100 |
7 of 7 |
|
GRN |
Ceroid Lipofuscinosis, |
AD,AR |
100 |
220 of 229 |
|
HEXA |
Tay-Sachs |
AR |
100 |
205 of 206 |
|
HNRNPA1 |
Amyotrophic Lateral |
AD |
99.98 |
13 of 13 |
|
HNRNPA2B1 |
Inclusion Body Myopathy, |
– |
99.98 |
5 of 6 |
|
HSPD1 |
Leukodystrophy, |
AD,AR |
100 |
7 of 7 |
|
KIF5A |
Amyotrophic Lateral |
AD |
100 |
85 of 85 |
|
MAPT |
Frontotemporal And |
AD,AR |
97.65 |
110 of 111 |
|
MATR3 |
Amyotrophic Lateral |
AD |
99.98 |
21 of 21 |
|
NEFH |
Amyotrophic Lateral |
AD,AR |
97.5 |
28 of 31 |
|
NEK1 |
Amyotrophic Lateral |
AD,AR,MU,D |
99.83 |
73 of 74 |
|
OPTN |
Amyotrophic Lateral |
AD,AR |
97.02 |
68 of 68 |
|
PFN1 |
Amyotrophic Lateral |
AD |
80.25 |
8 of 8 |
|
PON1 |
Amyotrophic Lateral |
– |
100 |
8 of 8 |
|
PON2 |
Amyotrophic Lateral |
– |
99.98 |
3 of 3 |
|
PON3 |
Amyotrophic Lateral |
– |
100 |
3 of 3 |
|
PPARGC1A |
Amyotrophic Lateral |
– |
99.88 |
6 of 6 |
|
PRF1 |
Aplastic Anemia, |
AR |
99.99 |
196 of 196 |
|
PRPH |
Amyotrophic |
AD,AR |
100 |
10 of 10 |
|
PSEN1 |
Acne Inversa, Alzheimer |
AD |
100 |
326 of 332 |
|
REEP1 |
Neuronopathy, |
AD |
100 |
62 of 62 |
|
SETX |
Amyotrophic Lateral |
AD,AR |
99.71 |
219 of 227 |
|
SIGMAR1 |
Amyotrophic Lateral |
AR |
100 |
20 of 20 |
|
SLC52A2 |
Brown-Vialetto-Van |
AR |
100 |
31 of 32 |
|
SLC52A3 |
Bulbar Palsy |
AR |
100 |
43 of 43 |
|
SOD1 |
Amyotrophic Lateral |
AD,AR |
100 |
217 of 221 |
|
SPART |
Spastic |
AR |
99.9 |
– |
|
SPAST |
Spastic |
AD |
99.98 |
616 of 655 |
|
SPG11 |
Amyotrophic Lateral |
AR |
99.93 |
289 of 297 |
|
SQSTM1 |
Frontotemporal And |
AD,AR |
99.25 |
105 of 107 |
|
TAF15 |
Chondrosarcoma, |
– |
95.53 |
13 of 13 |
|
TARDBP |
Amyotrophic Lateral |
AD |
90.84 |
71 of 74 |
|
TBK1 |
Encephalopathy, |
AD |
99.91 |
141 of 142 |
|
TIA1 |
Welander Distal |
AD,AR |
100 |
13 of 13 |
|
TREM2 |
Polycystic Lipomembranous |
AD |
100 |
55 of 55 |
|
TRPM7 |
Amyotrophic Lateral |
AD |
99.59 |
6 of 6 |
|
TUBA4A |
Amyotrophic Lateral |
AD |
99.97 |
13 of 13 |
|
UBQLN2 |
Amyotrophic |
X,XD,G |
99.78 |
– |
|
UNC13A |
Amyotrophic Lateral |
– |
99.41 |
12 of 12 |
|
VAPB |
Amyotrophic |
AD |
100 |
9 of 9 |
|
VCP |
Amyotrophic Lateral |
AD |
100 |
68 of 69 |
|
WASHC5 |
Dandy-Walker- |
AD,AR |
99.99 |
– |
* Herencia: AD: Autosómico Dominante; AR: autosómico recesivo; X: ligado a X; XLR: recesivo vinculado a X; Mi: mitocondrial; Mu: multifactorial; G: herencia gonosomal; D: herencia digénica
** HGMD: número de mutaciones clínicamente relevantes según HGMD
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