Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease characterized by the selective loss of motor neurons in the motor cortex, brain stem, and spinal cord. The dysfunction and loss of these neurons results in muscle weakness, atrophy and eventually paralysis of limb, bulbar and respiratory muscles. The prevalence of ALS is 1-9 per 100,000. A majority of ALS occurs in individuals with no family history of ALS. Familial ALS is most frequently inherited in an autosomal dominant disorder. Less frequently, it can be inherited in an autosomal recessive or X-linked fashion.
The four genes most commonly implicated in familial ALS are C9orf72, SOD1, FUS and TARDBP (PMID 20301623). This test analyses the hexanucleotide repeat region of C9orf72, whilst the SOD1/FUS/TARDBP gene panel is available as a separate test.
C9orf72 repeat expansions are the most common cause of ALS, and are implicated in 39-45% of familial ALS, and 3-7% of sporadic ALS. This form of ALS is also associated with behavioural variant frontotemporal dementia (FTD).
Genetics - Molecular Pathology
MOLP
Motor neuron disease
MND
Frontotemporal dementia
FTD
4 weeks