TY - JOUR
T1 - Neurology of inherited glycosylation disorders
AU - Freeze, Hudson H.
AU - Eklund, Erik A.
AU - Ng, Bobby G.
AU - Patterson, Marc C.
N1 - Funding Information:
HHF is supported by The Rocket Fund, National Institutes of Health (R01DK55615) , and a Sanford Professorship; EAE is supported by Avtal om läkarutbildning och forskning and Crafoordska stiftelsen; and MCP is supported by NINDS (U54 NS065768) , National MS Society, Actelion Pharmaceuticals, and Merck-Serono. We thank Kimiyo Raymond for allowing us to cite her unpublished work, Ping He, Mariam Rodriguez Lee, Marie-Estelle Losfeld, and Vandana Sharma for critical review of the paper, and Amy Zimmon for her expert assistance in preparation of the Review. We also thank Gert Matthijs, Rafael Artuch Iriberri, Donna Krasnewich, Flemming Skovby, and Nathalie Seta for providing information on the numbers of patients with specific congenital disorders of glycosylation.
PY - 2012/5
Y1 - 2012/5
N2 - Congenital disorders of glycosylation comprise most of the nearly 70 genetic disorders known to be caused by impaired synthesis of glycoconjugates. The effects are expressed in most organ systems, and most involve the nervous system. Typical manifestations include structural abnormalities (eg, rapidly progressive cerebellar atrophy), myopathies (including congenital muscular dystrophies and limb-girdle dystrophies), strokes and stroke-like episodes, epileptic seizures, developmental delay, and demyelinating neuropathy. Patients can also have neurological symptoms associated with coagulopathies, immune dysfunction with or without infections, and cardiac, renal, or hepatic failure, which are common features of glycosylation disorders. The diagnosis of congenital disorder of glycosylation should be considered for any patient with multisystem disease and in those with more specific phenotypic features. Measurement of concentrations of selected glycoconjugates can be used to screen for many of these disorders, and molecular diagnosis is becoming more widely available in clinical practice. Disease-modifying treatments are available for only a few disorders, but all affected individuals benefit from early diagnosis and aggressive management.
AB - Congenital disorders of glycosylation comprise most of the nearly 70 genetic disorders known to be caused by impaired synthesis of glycoconjugates. The effects are expressed in most organ systems, and most involve the nervous system. Typical manifestations include structural abnormalities (eg, rapidly progressive cerebellar atrophy), myopathies (including congenital muscular dystrophies and limb-girdle dystrophies), strokes and stroke-like episodes, epileptic seizures, developmental delay, and demyelinating neuropathy. Patients can also have neurological symptoms associated with coagulopathies, immune dysfunction with or without infections, and cardiac, renal, or hepatic failure, which are common features of glycosylation disorders. The diagnosis of congenital disorder of glycosylation should be considered for any patient with multisystem disease and in those with more specific phenotypic features. Measurement of concentrations of selected glycoconjugates can be used to screen for many of these disorders, and molecular diagnosis is becoming more widely available in clinical practice. Disease-modifying treatments are available for only a few disorders, but all affected individuals benefit from early diagnosis and aggressive management.
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U2 - 10.1016/S1474-4422(12)70040-6
DO - 10.1016/S1474-4422(12)70040-6
M3 - Review article
C2 - 22516080
AN - SCOPUS:84859849103
SN - 1474-4422
VL - 11
SP - 453
EP - 466
JO - The Lancet Neurology
JF - The Lancet Neurology
IS - 5
ER -