Novel PTEN mutation with leukoencephalopathy, basal ganglia calcification and action tremor
A 36-year-old security officer presented with a 2.5-year history of left upper limb tremor, which worsened on pouring water. There was no slowing of movements, lower limb tremor, or improvement with alcohol. His four-year-old daughter was born prematurely and had been investigated for developmental delay in walking after her 2nd birthday, general clumsiness/dyspraxia and macrocephaly. Examination of the proband revealed relative macrocephaly (head circumference 98th centile), mild dystonic posturing and position-specific left upper limb action tremor.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Sacha E. Gandhi, Helen R. Murphy, Mark W. Kellett, Rekha Siripurapu, Christopher Kobylecki Tags: Correspondence Source Type: research