Titlebook: A-Z of Neurological Practice; A Guide to Clinical Andrew J. Larner,Alasdair J. Coles,Roger A. Barker Book 2011Latest edition Springer-Verl

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Yong Ma,Xiu-li Chen,Tu Ya,Tong Wens have been demonstrated to date, but in less than 30% of patients: KAL1 (X-linked recessive form), FGFR1 and FGF8 (autosomal dominant with incomplete penetrance), and PROKR2 and PROK2 (heterozygous, homozygous, and compound heterozygous states).

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https://doi.org/10.1007/978-3-031-23944-1se patients may have subtle neurological signs such as cogwheel rigidity and tics, such that the condition may be confused with other . with akinetic rigidity. Dysfunction in a frontal–basal ganglia loop is implicated in pathogenesis, and PET scanning has demonstrated hypermetabolism in orbital frontal, premotor, and mid-frontal cortex.

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