Mitochondrion. 2011; 11 :70–5. [ PubMed : 20656066 ] Vits L, Chitayat D, Van Camp G, Holden JJ, Fransen E, Willems PJ. Evidence for somatic and germline mosaicism in CRASH syndrome. [ncbi.nlm.nih.gov]

Fransen E, Schrander-Stumpel C, Vits L, Coucke P, Van Camp G, Willems PJ (1994): Xlinked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene. Hum Mol Genet 3:2255-2256. [slidex.tips]

The clinical phenotype is one of complicated HSP with the spastic paraparesis being associated with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and distal amyotrophy secondary to an apparent axonal motor neuropathy. [jnnp.bmj.com]

In both reports urinary symptoms were also present. 23 24 Sexual dysfunction has only been described in one family. It occurred about 10–15 years after the onset of disease, and so the patient's reproductive capacity was not dramatically affected. [jnnp.bmj.com]

Spastic quadriplegia Spastic tetraplegia Spastic triplegia Spastic tubes Print Page Collapse All Expand All TFODE search provider Text Size: A A A A A Double-click Lookup: [enc.tfode.com]

quadriplegia, and mental retardation ( ELOVL4) 44,000/- Rs Ichthyosis, X-linked ( STS) 44,000/- Rs IMAGE syndrome ( CDKN1C) 44,000/- Rs Immunodeficiency common variable type 1 ( ICOS) 44,000/- Rs Immunodeficiency common variable type 10 ( NFKB2) 44,000 [oricent.com]