LAMB1 Autosomal Dominant

Clinical Characteristics

The two main clinical and neuroradiological findings observed in individuals with a heterozygous pathogenic variant in the LAMB1 gene are:
•    A memory defect starting around 60 years old
•    Hypersignals of the white matter on cerebral MRI

The penetrance of these mutations (percentage of people who carry the mutation who will develop the disease) are currently unknown.