An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures.
The authors describe three siblings born to consanguineous parents with early onset ataxia, dysarthria, myoclonic, generalized tonic clonic seizures, upward gaze palsy, extensor plantar reflexes, sensory neuropathy, and normal cognition. Direct screening excluded mutations in FRDA, TDP1,and SACS genes and at 8344, 3243, and 8993 positions of mitochondrial DNA. Linkage analysis excluded AOA-1, EPM1, EPM2A, EPM2B, CAMOS, and recessive ataxias linked to chromosome 9q34-9qter. This clinical constellation may represent a distinct form of early onset cerebellar ataxia.
Straussberg
R
R
Neurogenetic Clinic, Schneider Children's Medical Center of Israel, Sackler School of Medicine, Tel Aviv University, Petach Tikvah, 14 Kaplan St., Petah Tikva, Israel 49202. rachelst@post.tau.ac.il
Basel-Vanagaite
L
L
Kivity
S
S
Dabby
R
R
Cirak
S
S
Nurnberg
P
P
Voit
T
T
Mahajnah
M
M
Inbar
D
D
Saifi
G M
GM
Lupski
J R
JR
Delague
V
V
Megarbane
A
A
Richter
A
A
Leshinsky
E
E
Berkovic
S F
SF
D002524:Cerebellar Ataxia / Q000235:genetics*; D002648:Child; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008297:Male; D015835:Ocular Motility Disorders / Q000235:genetics*; D015840:Oculomotor Nerve Diseases / Q000235:genetics*; D012640:Seizures / Q000235:genetics*; D013577:Syndrome