TY - JOUR
T1 - Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10)
AU - Ásbjörnsdóttir, Birna
AU - Henriksen, Otto Mølby
AU - Lindquist, Suzanne
AU - Møller, Lisbeth Birk
AU - Sidaros, Annette
AU - Nielsen, Jørgen Erik
N1 - Publisher Copyright:
© 2022 BMJ Publishing Group Limited.
PY - 2022
Y1 - 2022
N2 - Biallelic pathogenic variants in the ANO10 gene cause spinocerebellar ataxia recessive type 10. We report two patients, both compound heterozygous for ANO10 variants, including two novel variants. Both patients had onset of cerebellar ataxia in adulthood with slow progression and presented corticospinal tract signs, eye movement abnormalities and cognitive executive impairment. One of them had temporal lobe epilepsy and she also carried a heterozygous variant in CACNB4, a potential risk gene for epilepsy. Both patients had pronounced cerebellar atrophy on cerebral magnetic resonance imaging (MRI) and reduced metabolic activity in cerebellum as well as in the frontal lobes on 2-deoxy-2-(18 F)fluoro-D-glucose positron emission tomography ((18 F)FDG PET) scans. We provide comprehensive clinical, radiological and genetic data on two patients carrying likely pathogenic ANO10 gene variants. Furthermore, we provide evidence for a cerebellar as well as a frontal involvement on brain (18 F)FDG PET scans which has not previously been reported.
AB - Biallelic pathogenic variants in the ANO10 gene cause spinocerebellar ataxia recessive type 10. We report two patients, both compound heterozygous for ANO10 variants, including two novel variants. Both patients had onset of cerebellar ataxia in adulthood with slow progression and presented corticospinal tract signs, eye movement abnormalities and cognitive executive impairment. One of them had temporal lobe epilepsy and she also carried a heterozygous variant in CACNB4, a potential risk gene for epilepsy. Both patients had pronounced cerebellar atrophy on cerebral magnetic resonance imaging (MRI) and reduced metabolic activity in cerebellum as well as in the frontal lobes on 2-deoxy-2-(18 F)fluoro-D-glucose positron emission tomography ((18 F)FDG PET) scans. We provide comprehensive clinical, radiological and genetic data on two patients carrying likely pathogenic ANO10 gene variants. Furthermore, we provide evidence for a cerebellar as well as a frontal involvement on brain (18 F)FDG PET scans which has not previously been reported.
KW - brain stem / cerebellum
KW - neuro genetics
U2 - 10.1136/bcr-2021-248228
DO - 10.1136/bcr-2021-248228
M3 - Journal article
C2 - 35256372
AN - SCOPUS:85125981057
VL - 15
JO - BMJ Case Reports
JF - BMJ Case Reports
SN - 1757-790X
IS - 3
M1 - e248228
ER -