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Handb Clin Neurol. 2014;119:565-76. doi: 10.1016/B978-0-7020-4086-3.00037-0.

Neurologic manifestations of inherited disorders of connective tissue.

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Department of Epidemiology and Public Health, Raymond Poincaré Hospital, Garches, France; INSERM Unit U708, Pitié-Salpêtrière Hospital, Paris, France; University of Versailles - St Quentin en Yvelines, Versailles, France. Electronic address:
University of Versailles - St Quentin en Yvelines, Versailles, France; Division of Medical Genetics, National Referral Center for Fabry Disease and Inherited Disorders of Connective Tissue, CHU Raymond Poincaré, Garches, France.


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 of mucopolysaccharidosis type I. For the neurologist, being aware of these complications and of the diagnostic criteria for inherited connective tissue disorders is important since neurological complications can be the first manifestation of the disease and because caution may be warranted for the management of these patients.


Inherited disorders of connective tissue; Loeys–Dietz syndrome; Marfan syndrome; arterial dissection; cerebrovascular disease; homocystinuria; mucopolysaccharidoses; osteogenesis imperfecta; other neurological complications; pseudoxanthoma elasticum; vascular Ehlers–Danlos syndrome

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