Schizophrenia and Hereditary Polyneuropathy: PMP22 Deletion as a Common Pathophysiological Link?

Conclusion: There may be an association between schizophrenia and HNPP. In observational studies, the deletion of interest (chromosome 17p12) was nearly 10 times more common in schizophreniform patients than in controls. This potential association could be pathophysiologically explained by the role of PMP22, which is mainly expressed in the peripheral nervous system. However, PMP22 mRNA and protein can also be found in the brain. PMP22 seems to play an important role in regulating cell growth and myelination, functions that are disturbed in schizophrenia. Such a connection obviously cannot be clarified on the basis of one case. Future studies should analyze whether patients with HNPP exhibit increased rates of psychotic disorders, and patients with schizophrenia and repeated focal pressure neuropathies should be examined for the PMP22 mutation. Alternatively, the co-occurrence of schizophrenia and HNPP could be coincidental.BackgroundSchizophrenia is a common disorder with a prevalence rate of about 1% (1). The clinical presentation is characterized by hallucinations, delusions, loss of self-boundaries, disorganized thinking and speech, cognitive deficits, lack of motivation, and social withdrawal (1). Secondary, organic forms can result from various cerebral disorders that are caused by genetic (22q11 deletion syndrome, cerebrotendinous xanthomatosis, Niemann–Pick type C, etc.), immunological (limbic encephalitis, anti-NMDA-R encephalitis, Hashimoto encephalopathy, etc...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research

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