MRI with fibre tracking in Cogan congenital oculomotor apraxia

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Familial congenital oculomotor apraxia: clinical and electro-oculographic features.

The electro-oculographic (EOG) features of both horizontal and vertical eye movements in congenital oculomotor apraxia (COMA) were not previously reported. A girl referred to the ophthalmologic department for abnormal eye movements was diagnosed as COMA. The same abnormal ocular movements were observed in her younger sister and her father who was unaware of his difficulties to initiate voluntar...

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Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report.

Dear Editor, Ataxia with oculomotor apraxia type I (AOA1) is a recessively inherited ataxic disorder that is characterized clinically by the childhood onset of progressive cerebellar ataxia, oculomotor apraxia (OMA), and peripheral axonal sensorimotor neuropathy.1 Dystonia, chorea, and cognitive impairment are commonly associated symptoms, and hypoalbuminemia and hypercholesterolemia are often ...

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Early-Onset Friedreich's Ataxia With Oculomotor Apraxia.

Friedreich's ataxia (FRDA) is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a GAA-trinucleotide repeat expansion in the first intron of Frataxin gene located on chromosome 9. The clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. Ataxia with ...

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Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study

BACKGROUND The nosological assignment of congenital ocular motor apraxia type Cogan (COMA) is still controversial. While regarded as a distinct entity by some authorities including the Online Mendelian Inheritance in Man catalog of genetic disorders, others consider COMA merely a clinical symptom. METHODS We performed a retrospective multicenter data collection study with re-evaluation of cli...

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ژورنال

عنوان ژورنال: Pediatric Radiology

سال: 2010

ISSN: 0301-0449,1432-1998

DOI: 10.1007/s00247-010-1653-3