Global developmental delay, progressive relapsing-remitting parkinsonism, and spinal syrinx in a child with SOX6 mutation.
SOX6, a member of the SOX gene family, plays a key role in the development of several mammalian tissues and organs, including the central nervous system. Specifically, this gene modulates the differentiation and proliferation of interneurons in the medial ganglionic eminence, as well as oligodendrocytes in the spinal cord. We describe the case of a 4-year-old girl with global developmental delay and a spinal cord syrinx who presented with recurrent episodes of parkinsonian symptoms subsequent to febrile illnesses. The symptoms included gait instability, tremor, and dysarthria, with a progressive relapsing-remitting course over the span of 2 years. The patient was later found to have a large deletion-type mutation in the SOX6 gene. This case is the first report in humans implying a role for SOX6 in basal ganglia function, as well as spinal cord development.
Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.
Ori
O
Scott
Division of Neurosurgery, Department of Surgery, University of Alberta, Edmonton, Alberta, Canada.
Jeffrey
J
Pugh
Division of Urology and Pediatric Surgery, Department of Surgery, University of Alberta, Edmonton, Alberta, Canada.
Darcie
D
Kiddoo
Glenrose Rehabilitation Hospital, Stollery Children's Hospital, Division of Developmental Pediatrics, Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
Lyn K
LK
Sonnenberg
Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
Steven
S
Bamforth
Division of Pediatric Neurology, University of Alberta, Edmonton, Alberta, Canada helly.goez@albertahealthservices.ca.
Helly R
HR
Goez
D002675:Child, Preschool; D003560:Cysts / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D006801:Humans; D020734:Parkinsonian Disorders / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D055755:SOXD Transcription Factors / Q000235:genetics*; D017384:Sequence Deletion; D013116:Spinal Cord / Q000473:pathology; D013595:Syringomyelia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D013904:Thoracic Vertebrae
C486270:SOX6 protein, human; D055755:SOXD Transcription Factors
SOX6; basal ganglia; spinal syrinx