OMIM 303350 | GeneReviews L1 Syndrome | |
MASA syndrome, also called CRASH syndrome, Gareis-Mason syndrome, L1 syndrome, spastic paraplegia 1 is a rare X-linked recessive neurological disorder.
Contents
Clinical features
The acronym "MASA" describes the four major symptoms - Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs. Another name for this syndrome is "L1 syndrome".
The term "CRASH", for "corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus" has also been used to describe L1CAM-related disorders.
Genetics
The disorder has been associated with mutations in the L1CAM gene. This syndrome has severe symptoms in males, while females are carriers because only one X-chromosome is affected.
Diagnosis
A diagnosis can be made on the combination of clinical features. This can then be confirmed by gene sequencing.
Prenatal
A prenatal diagnostic is possible and very reliable when mother is carrier of the syndrome. First, it's necessary to determine the fetus' sex and then study X-chromosomes. In both cases, the probability to transfer the X-chromosome affected to the descendants is 50%. Male descendants who inherit the affected chromosome will express the symptoms of the syndrome, but females who do will be carriers.