MASA syndrome
| MASA syndrome | |
|---|---|
| Specialty | Neurology  |
MASA syndrome, also called CRASH syndrome, Gareis-Mason syndrome, L1 syndrome, spastic paraplegia 1[1][2] is a rare X-linked recessive[3] neurological disorder.
Clinical features
The acronym "MASA" describes the four major symptoms - Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs.[4] 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.[5]
References
- ^ Online Mendelian Inheritance in Man (OMIM): 303350
- ^ "L1 syndrome". Genetics Home Reference.
- ^ Winter RM, D. K.; Davies, K. E.; Bell, M. V.; Huson, S. M.; Patterson, M. N. (July 1989). "MASA syndrome: further clinical delineation and chromosomal localisation". Human Genetics. 82 (4): 367–370. doi:10.1007/bf00273999. PMID 2737668.
- ^ Bianchine JW, Lewis RC (1974). "The MASA syndrome: a new heritable mental retardation syndrome". Clin. Genet. 5 (4): 298–306. doi:10.1111/j.1399-0004.1974.tb01697.x. PMID 4855169.
- ^ Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ (1995). "CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1". European Journal of Human Genetics. 3 (5): 273–84. PMID 8556302.
External links
- MASA syndrome at NIH's Office of Rare Diseases
- GeneReview/NIH/UW entry on L1 Syndrome
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