Abstract
Perry syndrome is a rare form of autosomal dominant Parkinsonism with respiratory failure recently defined as being due to mutations in the DCTN1 gene. We describe a new family carrying a G71R mutation in the DCTN1 gene. The proband displayed a series of distinctive features not previously described in Perry syndrome: a disorder of vertical downward saccades accompanied by progressive midbrain atrophy, predominant nonmotor symptoms responsive to levodopa, distinctive craniocervical levodopa induced dyskinesias, and a good response to high-dose levodopa therapy and respiratory support. The family was initially thought to have autosomal dominant behavioral variant frontotemporal dementia with Parkinsonism. This report expands the clinical definition of this distinctive syndrome.
2009 Movement Disorder Society
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Arginine / genetics
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Behavioral Symptoms / complications
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Behavioral Symptoms / drug therapy
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Behavioral Symptoms / genetics*
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DNA Mutational Analysis
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Dopamine Agents / therapeutic use
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Dynactin Complex
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Glycine / genetics
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Humans
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Levodopa / therapeutic use
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Male
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Microtubule-Associated Proteins / genetics*
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Middle Aged
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Neuropsychological Tests
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Optic Nerve Diseases / complications
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Optic Nerve Diseases / drug therapy
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Optic Nerve Diseases / genetics*
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Parkinsonian Disorders / complications
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Parkinsonian Disorders / drug therapy
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Parkinsonian Disorders / genetics*
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Respiratory Insufficiency / complications
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Respiratory Insufficiency / drug therapy
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Respiratory Insufficiency / genetics*
Substances
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DCTN1 protein, human
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Dopamine Agents
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Dynactin Complex
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Microtubule-Associated Proteins
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Levodopa
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Arginine
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Glycine