Hypomyelination and congenital cataract: broadening the clinical phenotype.

Biancheri, Roberta;Zara, Federico;Rossi, Andrea;Mathot, Mikaël;Wolf, Nicole I;et.al.
(2011) Archives of Neurology — Vol. 68, n° 9, p. 1191-1194 (2011)

Files

2011-Hypomyelinationandcongenitalcataract.pdf
  • Restricted Access
  • Adobe PDF
  • 603.49 KB
Request a copy

Details

Authors
Show more
Abstract
Our study broadens the clinical spectrum of HCC. The clinical variability ranges from severe early-onset neurologic impairment to a milder phenotype. In contrast to this clinical variability, the peculiar magnetic resonance pattern of hypomyelination combined with increased periventricular white matter water content allows distinction of HCC from other forms of hypomyelinating leukoencephalopathies.
Affiliations

Citations

  • APA
  • Chicago
  • FWB

Biancheri, R., Zara, F., Rossi, A., Mathot, M., Nassogne, M.-C., Yalcinkaya, C., Erturk, O., Tuysuz, B., Di Rocco, M., Gazzerro, E., Bugiani, M., van Spaendonk, R., Sistermans, E. A., Minetti, C., van der Knaap, M. S., & Wolf, N. I. (2011). Hypomyelination and congenital cataract: broadening the clinical phenotype. Archives of Neurology, 68(9), 1191-1194. https://doi.org/10.1001/archneurol.2011.201 (Original work published 2011)