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Scientific Publications

Science combined with clinical diagnostics enhances common knowledge to the benefit of the medical community. Explore our findings and stay informed about the latest discoveries.

Vocal Cord Paralysis and Rapid Progressive Motor Neuron Disease by the I113F Mutation in SOD1 Gene

Familial cases of amyotrophic lateral sclerosis are most frequently caused by mutation in the superoxide dismutase-1 (SOD1) gene. We report a heterozygous I113F mutation in a patient with familial […]

Article
Mar 29, 2011
  • Neurology
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Hereditary Spastic Paraplegia Associated with Axonal Neuropathy: A Novel Mutation of SPG3A in a Large Family

Spastic paraplegia Type 3A is an autosomal-dominant pure or uncomplicated hereditary spastic paraplegia. It is caused by mutations in SPG3A, the only gene associated with this condition. We […]

Article
Feb 28, 2011
  • Neurology
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Juvenile Parkinsonism Associated with Heterozygous Frameshift ATP13A2 Gene Mutation

We report a case of levodopa-responsive juvenile parkinsonism (JP) associated with a heterozygous ATP13A2 gene frameshift mutation. To our knowledge, this is the youngest reported patient with JP […]

Article
Jan 03, 2011
  • Neurology
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Respiratory Disease in Niemann-Pick Type C2 Is Caused by Pulmonary Alveolar Proteinosis

Niemann-Pick diseases are hereditary neurovisceral lysosomal lipid storage disorders, of which the rare type C2 almost uniformly presents with respiratory distress in early infancy. In the patient […]

Article
Sep 29, 2009
  • Metabolic Disorders
  • Biomarker
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Ataxia Oculomotor Apraxia Type 2: Course over 27 Years and a Novel Stop Mutation in the Senataxin Gene

Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive cerebellar ataxia associated with mutations in the senataxin (SETX) gene coding for the ortholog of a yeast DNA/RNA helicase […]

Article
Apr 17, 2009
  • Neurology
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