Englot Neurosurgical Review (2018) COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA Brynjar O. Jensson, Sif Hansdottir, Gudny A. Arnadottir, Gerald Sulem, Ragnar P. [doi.org]

Abstract Alternating hemiplegia of childhood (AHC) is a severe brain disorder, mainly characterised by episodes of hemiplegia, progressive mental retardation, and other severe paroxysmal and permanent neurological symptoms. [ncbi.nlm.nih.gov]

On physical ground, almost all patients shared a similar physical phenotype consisting of hypotonia, long face, thin eyebrows, strabismus, hypertelorism, long palpebral fissures, downturned mouth, and slender habitus. [ncbi.nlm.nih.gov]

Patients with AHC are frequently underweight due to these side effects. The average age of onset for hemiplegic episodes has been found to be 6–7 months of age. [en.wikipedia.org]

On physical ground, almost all patients shared a similar physical phenotype consisting of hypotonia, long face, thin eyebrows, strabismus, hypertelorism, long palpebral fissures, downturned mouth, and slender habitus. [ncbi.nlm.nih.gov]

The patient shows mild dysmetria and intention tremor at cerebellar functional tests. Cranial nerve examination was normal as well as position and sensations. [doi.org]

At that time, mild increased tone was found, tendon reflexes were 3 throughout, and a right extensor plantar response and a bilateral achilleus clonus were present. [doi.org]

At the last neurological examination (performed at 42 years of age), choreoathetoid movements and horizontal nystagmus were present with mild gait ataxia. [doi.org]

The first was dominated by abnormal eye movements and dystonic episodes, the second by hemiplegic spells and psychomotor regression, and the third by persistent developmental delay and fixed neurologic deficits. [ncbi.nlm.nih.gov]

Over half the affected cohort (28/52) had intraventricular conduction delay, or incomplete right bundle branch block, a much higher proportion than in the normal population or disease control cohort (P 0.0164). [ncbi.nlm.nih.gov]

Half the cohort (26/52) had resting 12-lead electrocardiogram abnormalities: 25/26 had repolarization (T wave) abnormalities. [ncbi.nlm.nih.gov]

change in the above MR study. [ncbi.nlm.nih.gov]