CoPAN
CoPan, or COASY Protein-Associated Neurodegeneration is an autosomal recessive disorder caused by a mutation in the COASY gene.
At this time only a few cases have been identified with this rare form of NBIA.
At present, it appears that onset usually occurs in childhood and spasticity and dystonia of the lower limbs are present early on, while dystonia of the mouth and jaw appears later in the disease process.
Speech problems are also seen, including stuttering and slurring of words, caused by dysarthria.
Clinical Diagnosis of CoPAN
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T2-weighted MRI views of the brain with findings showing hypointensity in the substantia nigra and the globus pallidus were found in one case, as well as hyperintensity and swelling in the caudate nuclei, putamina and thalamus in another individual. There was also reported calcifications in the globus pallidus in one individual.
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Diagnosis of CoPAN can be confirmed through genetic testing of the COASY gene to find gene changes. Genetic testing is done through sequence analysis.
To establish the extent of disease in an individual diagnosed with CoPAN, the following evaluations may be useful:
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Neurologic examination for dystonia, rigidity, spasticity and parkinsonism, including formal evaluation of ambulation and speech.
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Screening for developmental assessment, with referral for more formal testing if delay is indicated
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Assessment for physical therapy, occupational therapy, and/or speech therapy and appropriate assistive devices
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Psychiatric assessment for possible obsessive-compulsive behavior.
Managing CoPAN
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Treatment is aimed primarily at the dystonia, which can be debilitating. Therapies used with varying success include the oral medications baclofen, anticholinergics, tizanidine, and dantrolene; focal injection of botulinum toxin; intrathecal baclofen; and deep brain stimulation.
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The symptoms of parkinsonism can be treated with the same medications used in Parkinson’s disease.
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Attention should be given to swallowing to prevent aspiration and diet with regular measurement of height and weight in children to assure adequate nutrition with gastrostomy tube placement as needed.
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Assessment of ambulation and speech and communication needs also recommended.
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While the symptoms of CoPAN typically progress at a slow rate, by the time most reported individuals with CoPAN reach their 30s, they are no longer ambulatory and are confined to a wheelchair.
Please visit the NBIA Disorders Association website, which was used as a primary source for the above information.