Abstract:
:The combination of neurologic disease and ichthyosis defines a heterogeneous group of rare inherited disorders that present in infancy through early adulthood. Although affected patients share the cutaneous feature of ichthyosis, there is variability in the nature and severity of neurologic disease. Impaired cognition, spasticity, sensorineural deafness, visual impairment, and/or seizures are the primary neurologic findings. Most of these disorders are caused by genetic defects in lipid metabolism, glycoprotein synthesis, or intracellular vesicle trafficking. The clinical features of some of the neuro-ichthyoses are distinct enough to allow their clinical recognition, but confirmatory biochemical or genetic tests are necessary for accurate diagnosis. Treatment of the ichthyosis is largely symptomatic, and except for Refsum's disease, there are no effective pathogenesis-based therapies for the neurologic disease.
journal_name
Semin Neuroljournal_title
Seminars in neurologyauthors
Rizzo WB,Jenkens SM,Boucher Pdoi
10.1055/s-0032-1306390subject
Has Abstractpub_date
2012-02-01 00:00:00pages
75-84issue
1eissn
0271-8235issn
1098-9021journal_volume
32pub_type
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