Abstract
Inherited disorders of connective tissue are single gene disorders affecting structure or function of the connective tissue. Neurological manifestations are classic and potentially severe complications of many such disorders. The most common neurological manifestations are cerebrovascular. Ischemic stroke is a classic complication of vascular Ehlers-Danlos syndrome (type IV), homocystinuria, and arterial tortuosity syndrome, and may occasionally be seen in Marfan syndrome and pseudoxanthoma elasticum with distinct underlying mechanisms for each disease. Vascular Ehlers-Danlos syndrome can also lead to cervical artery dissection (with or without ischemic stroke), carotid-cavernous fistula, intracranial dissections and aneurysms potentially causing subarachnoid or intracerebral hemorrhage, and arterial rupture. Other neurological manifestations include nerve root compression and intracranial hypotension due to dural ectasia in Marfan and Loeys-Dietz syndrome, spinal cord compression in osteogenesis imperfecta, and mucopolysaccharidosis type I and VI, carpal tunnel syndrome in mucopolysaccharidosis type I, II, and VI. Impaired mental development can be observed in homocystinuria, mucopolysaccharidosis type II, and the severe form ...Continue Reading
Citations
Apr 23, 2014·Ophthalmic Genetics·Christophe OrssaudDominique P Germain
Aug 12, 2016·Interventional Neuroradiology : Journal of Peritherapeutic Neuroradiology, Surgical Procedures and Related Neurosciences·Sarasa T KimDavid F Kallmes
Sep 18, 2014·Current Treatment Options in Neurology·Sharon N PoissonTimothy J Bernard
Aug 19, 2014·Current Cardiology Reports·Elena Moraitis, Vijeya Ganesan
May 23, 2019·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Yulei HaoJiachun Feng
Jan 13, 2018·BMC Neurology·Zhu ZhuLuyao Wang
Mar 23, 2017·Neurosurgery·Jörg Klekamp
Jan 1, 2018·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·I V DrukM V Korsakov
May 26, 2018·Journal of Neurosurgery. Spine·Gabriella M PaisanAllan D Levi
Jun 10, 2016·Der Nervenarzt·A ApetroaeP D Schellinger
May 11, 2017·Orphanet Journal of Rare Diseases·Dominique P Germain
Jul 21, 2017·Internal and Emergency Medicine·Raffaele MannaUNKNOWN International Panel for RAre recurrent FUO-IPRAFUO
Jun 27, 2018·Orphanet Journal of Rare Diseases·Salma AdhamMichael Frank
Aug 18, 2018·Journal of Human Genetics·Kun WangUNKNOWN Deciphering Disorders Involving Scoliosis & Comorbidities (DISCO) study
Nov 1, 2016·Current Cardiology Reports·Ganesh Chauhan, Stéphanie Debette
Mar 15, 2020·Journal of Neuroradiology. Journal De Neuroradiologie·John C BensonWaleed Brinjikji
Jan 8, 2021·Rheumatology·Rachel S BrooksSvetlana Blitshteyn
Nov 14, 2020·Chiropractic & Manual Therapies·Henry Pollard, Rachel Pollard
Jul 11, 2021·Journal of Neurointerventional Surgery·Fawaz Al-MuftiUNKNOWN SNIS Standards and Guidelines Committee and SNIS Board of Directors
Sep 17, 2017·European Journal of Vascular and Endovascular Surgery : the Official Journal of the European Society for Vascular Surgery·Paula R KeschenauMichael J Jacobs