TY  - JOUR
AU  - Pellerin, David
AU  - Danzi, Matt C
AU  - Renaud, Mathilde
AU  - Houlden, Henry
AU  - Synofzik, Matthis
AU  - Zuchner, Stephan
AU  - Brais, Bernard
TI  - Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.
JO  - Clinical and translational medicine
VL  - 14
IS  - 1
SN  - 2001-1326
CY  - Hoboken, NJ
PB  - Wiley
M1  - DZNE-2024-00107
SP  - e1504
PY  - 2024
AB  - Hereditary ataxias, especially when presenting sporadically in adulthood, present a particular diagnostic challenge owing to their great clinical and genetic heterogeneity. Currently, up to 75
KW  - Adult
KW  - Humans
KW  - Spinocerebellar Ataxias: diagnosis
KW  - Spinocerebellar Ataxias: drug therapy
KW  - Spinocerebellar Ataxias: genetics
KW  - Ataxia: complications
KW  - Phenotype
KW  - 4-aminopyridine (Other)
KW  - FGF14 (Other)
KW  - GAA-FGF14 ataxia (Other)
KW  - cerebellar ataxia (Other)
KW  - genetics (Other)
KW  - repeat expansion disorder (Other)
KW  - therapy (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:38279833
C2  - pmc:PMC10819088
DO  - DOI:10.1002/ctm2.1504
UR  - https://pub.dzne.de/record/267343
ER  -