A SLC20A2 gene mutation carrier displaying ataxia and increased levels of cerebrospinal fluid phosphate.
Department of Neurology, Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. Electronic address: martin.paucar-arce@karolinska.se.
Martin
M
Paucar
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Department of Neuroradiology, Karolinska University Hospital, Stockholm, Sweden.
Håkan
H
Almqvist
Department of Geriatric Medicine, Memory Clinic, Karolinska University Hospital-Huddinge, Stockholm, Sweden; Department of Neurobiology, Care Sciences and Society, Division of Clinical Geriatrics, Karolinska Institutet, Stockholm, Sweden.
Vesna
V
Jelic
Department of Neurobiology, Care Sciences and Society, Division of Clinical Geriatrics, Karolinska Institutet, Stockholm, Sweden.
Göran
G
Hagman
Division of Medicine, Department of Clinical Sciences Danderyd Hospital, Karolinska Institutet, Stockholm, Sweden.
Gun
G
Jörneskog
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Department of Neuroradiology, Karolinska University Hospital, Stockholm, Sweden.
Staffan
S
Holmin
Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden.
Ingemar
I
Björkhem
Department of Neurology, Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Per
P
Svenningsson
D001259:Ataxia / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D001921:Brain / Q000000981:diagnostic imaging; D002114:Calcinosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D018450:Disease Progression; D005260:Female; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010710:Phosphates / Q000134:cerebrospinal fluid*; D050611:Sodium-Phosphate Cotransporter Proteins, Type III / Q000235:genetics*
D010710:Phosphates; C493589:SLC20A2 protein, human; D050611:Sodium-Phosphate Cotransporter Proteins, Type III
Ataxia; Dementia; PFBC; Phosphate transporter 2; SLC20A2