A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly

作者：Shah Siddharth; Kumar Yadlapalli; McLean Brendan; Churchill Amanda; Stoodley Neil; Rankin Julia; Rizzu Patrizia; van der Knaap Marjo; Jardine Philip^*

来源：European Journal of Paediatric Neurology, 2010, 14(2): 182-187.

DOI：10.1016/j.ejpn.2009.04.010

• Leukoencephalopathy
• Collagen 4A1
• Mutation
• Cataracts

We describe a three generation family with recurrent strokes and cataracts The index case, a 14 year old boy presented with stroke at the age of 14 years and again 6 months later His mother had long standing episodic headaches diagnosed as migraine Grandmother was initially diagnosed with multiple sclerosis and had recurrent strokes at age 18 years and 49 years MRI scanning showed a diffuse leukoencephalopathy with microhaemorrhages in all three individuals All of the family members had cataracts but did not have retinal arterial changes Sequence analysis of COL4A1 revealed the heterozygous missense mutation c 2263G -> A in exon 30, responsible for a glycine-to-arginine substitution (p Gly755Arg) in both the index case and mother Grandmother died at the age of 73 years and DNA analysis was not possible Mutation in COL4A1 should be considered

• 出版日期2010-3