“Atypical” Atypical Parkinsonism

Author(s):  
Roberto Erro ◽  
Stephanie Hirschbichler
2021 ◽  
Author(s):  
Gerard Saranza ◽  
Emilio Q. Villanueva ◽  
Anthony E. Lang

The Lancet ◽  
1999 ◽  
Vol 354 (9188) ◽  
pp. 1472-1473 ◽  
Author(s):  
Irene Litvan

2008 ◽  
Vol 23 (5) ◽  
pp. 727-733 ◽  
Author(s):  
Thomas Eckert ◽  
Chengke Tang ◽  
Yilong Ma ◽  
Nathaniel Brown ◽  
Tanya Lin ◽  
...  

2013 ◽  
Vol 28 (13) ◽  
pp. 1816-1822 ◽  
Author(s):  
Janey Prodoehl ◽  
Hong Li ◽  
Peggy J. Planetta ◽  
Christopher G. Goetz ◽  
Kathleen M. Shannon ◽  
...  

2021 ◽  
Author(s):  
Emília Correia Souto ◽  
Carolina Maria Marin ◽  
Gustavo Carvalho Costa ◽  
Igor Braga Farias ◽  
Bruno de Mattos Lombardi Badia ◽  
...  

Introduction: Parkinson’s disease - PD is the second most common agerelated neurodegenerative disorder. Characterized by a variety of motor and non-motor symptoms that relate to the loss of dopaminergic neurons in the midbrain black substance. Although most cases of PD are sporadic, 5–10% of patients have monogenetic mutations with a description of more than 20 genes for the familial form. Mitochondrial mutation in CHCHD10 has also been reported to be associated with a wide spectrum of neurodegenerative disorders, including PD. Objectives: Description of a rare recently described genetic cause of autosomal dominant parkinsonism. Methodology: Describe the case of a Brazilian woman with atypical parkinsonism due to CHCHD10 pathogenic variant that was followed up in our service. Result: Female, 64 years old. “. He started episodes of imbalance about 5 years ago, with falls, in addition to limb stiffness, worse on the left. 4 years ago, he started myalgia to great efforts with low subsequent tolerance to light effort. 1 year ago with urinary incontinence and choking past of poor performance in physical activities without pre-motor symptoms FAMILY: mother with clinical picture of possible dementia syndrome at age 60, history in the maternal family of myalgia, intolerance to physical exercise and hearing loss in adulthood. EXOMA: presence of variant c.146C > T (p.Ala49Val) in simple heterozygosity without CHCHD10 gene. MRI with thigh muscle hypotrophy in anterior and posterior thigh compartments; slight muscle edema in the legs. Conclusion: Pathogenic variants in the CHCHD10 gene should be considered in cases of atypical parkinsonism, especially in cases of positive familial history of mitochondrial myopathy or dementia.


The Lancet ◽  
1999 ◽  
Vol 354 (9188) ◽  
pp. 1473-1474 ◽  
Author(s):  
Michael A Collins

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