Cerebellar ataxia with progressive improvement.
BACKGROUND
Nonprogressive cerebellar ataxias are characterized by a persistent, nonprogressive ataxia associated with cognitive impairment. Cerebellar hypoplasia on imaging is variable but is not predictive of the degree of ataxia or cognitive impairment.


OBJECTIVE
To describe a family with a nonprogressive cerebellar ataxia associated with cognitive and motor impairments that improve with age.


METHODS
Genetic study in a family with nonprogressive cerebellar ataxia. Clinical and imaging features are also described.


METHODS
Community hospital.


METHODS
Both parents and 3 children from an affected family.


METHODS
Clinical features, magnetic resonance imaging findings, and genetic findings.


RESULTS
A genome-wide single nucleotide polymorphism screen did not show clear linkage to known spinocerebellar ataxia loci, in particular spinocerebellar ataxia type 15. Repeat spinocerebellar ataxia loci expansions were excluded. Magnetic resonance images of all affected individuals demonstrated cerebellar vermian abnormalities.


CONCLUSIONS
These findings suggest that nonprogressive cerebellar ataxia is genetically heterogeneous and, when associated with gradual improvement in cognition and motor skills, likely represents a separate, distinct clinical entity.
Tsao
Jack W
JW
Department of Neurology, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Room A1036, Bethesda, MD 20814, USA. jtsao@usuhs.mil
Neal
Jason
J
Apse
Kira
K
Stephan
Mark J
MJ
Dobyns
William B
WB
Hill
Robert S
RS
Walsh
Christopher A
CA
Sheen
Volney L
VL
D000328:Adult; D001284:Atrophy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000503:physiopathology; D002531:Cerebellum / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics* / Q000503:physiopathology; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D020127:Recovery of Function / Q000235:genetics; D012075:Remission, Spontaneous; D019680:Trinucleotide Repeat Expansion / Q000235:genetics