Autosomal recessive cerebellar ataxia with bull’s-eye macular dystrophy

Autor: Kirsti U Eerola, Hans R Vrijland, Albert L. Aandekerk, Hubertus P.H Kremer, August F. Deutman, Johannes R.M. Cruysberg
Rok vydání: 2002
Předmět:
Male
Retinal degeneration
congenital
hereditary
and neonatal diseases and abnormalities
Pathology
medicine.medical_specialty
Ataxia
Cerebellar Ataxia
Fundus Oculi
Pathofysiologie van Hersenen en Gedrag
Genes
Recessive
Pathophysiology of Brain and Behaviour
Macular Degeneration
Autosomal dominant cerebellar ataxia
medicine
Humans
experimenteel en klinisch onderzoek en behandeling. [Erfelijke en verworven vitreo-retinale aandoeningen]
Fluorescein Angiography
Cerebellar ataxia
business.industry
Autosomal recessive cerebellar ataxia
Middle Aged
Macular dystrophy
Macular degeneration
medicine.disease
eye diseases
Ophthalmology
Disease Progression
Spinocerebellar ataxia
experimental and clinical research and treatment. [Hereditary and acquired vitreo-retinal disorders]
medicine.symptom
business
Follow-Up Studies
Zdroj: American Journal of Ophthalmology, 133, 410-3
American Journal of Ophthalmology, 133, 3, pp. 410-3
ISSN: 0002-9394
Popis: Item does not contain fulltext PURPOSE: In 1980, we published in the American Journal of Ophthalmology two siblings with hereditary ataxia and atrophic maculopathy. The report is cited in the literature as autosomal dominant cerebellar ataxia with retinal degeneration. The purpose of the present study is to document the progression of the neurodegenerative disorder and to review the diagnosis. DESIGN: Observational case report. METHODS: Twenty years after the original publication, the 52-year-old male patient had new ocular and neurologic examinations, fluorescein angiography, molecular genetic analysis, and biochemical testing. RESULTS: Fluorescein angiography showed marked progression of the macular dystrophy to a bull's-eye configuration. Genetic analysis of the patient did not show CAG trinucleotide repeat expansion in the various spinocerebellar ataxia genes. This excludes the diagnosis of autosomal dominant cerebellar ataxia with macular degeneration (ADCA type II) with mutation of the spinocerebellar ataxia 7 gene. Major causes of autosomal recessive cerebellar ataxia with retinal degeneration, including Friedreich ataxia and congenital disorders of glycosylation, were also excluded. CONCLUSION: The two patients, previously published in the American Journal of Ophthalmology by Eerola and coworkers, did not suffer from presently recognized disorders with cerebellar ataxia and retinal degeneration. The Eerola syndrome probably represents a separate neurodegenerative entity characterized by autosomal recessive cerebellar ataxia and progressive macular dystrophy with a bull's-eye pattern.
Databáze: OpenAIRE
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