TY - JOUR
T1 - Fragile X premutation tremor/ataxia syndrome
T2 - Molecular, clinical, and neuroimaging correlates
AU - Jacquemont, Sébastien
AU - Hagerman, Randi J
AU - Leehey, Maureen
AU - Grigsby, Jim
AU - Zhang, Lin
AU - Brunberg, James A
AU - Greco, Claudia
AU - Des Portes, Vincent
AU - Jardini, Tristan
AU - Levine, Richard
AU - Berry-Kravis, Elizabeth
AU - Brown, W. Ted
AU - Schaeffer, Stephane
AU - Kissel, John
AU - Tassone, Flora
AU - Hagerman, Paul J
PY - 2003/4/1
Y1 - 2003/4/1
N2 - We present a series of 26 patients, all >50 years of age, who are carriers of the fragile X premutation and are affected by a multisystem, progressive neurological disorder. The two main clinical features of this new syndrome are cerebellar ataxia and/or intention tremor, which were chosen as clinical inclusion criteria for this series. Other documented symptoms were short-term memory loss, executive function deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower limb proximal muscle weakness, and autonomic dysfunction. Symmetrical regions of increased T2 signal intensity in the middle cerebellar peduncles and adjacent cerebellar white matter are thought to be highly sensitive for this neurologic condition, and their presence is the radiological inclusion criterion for this series. Molecular findings include elevated mRNA and low-normal or mildly decreased levels of fragile X mental retardation 1 protein. The clinical presentation of these patients, coupled with a specific lesion visible on magnetic resonance imaging and with neuropathological findings, affords a more complete delineation of this fragile X premutation-associated tremor/ataxia syndrome and distinguishes it from other movement disorders.
AB - We present a series of 26 patients, all >50 years of age, who are carriers of the fragile X premutation and are affected by a multisystem, progressive neurological disorder. The two main clinical features of this new syndrome are cerebellar ataxia and/or intention tremor, which were chosen as clinical inclusion criteria for this series. Other documented symptoms were short-term memory loss, executive function deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower limb proximal muscle weakness, and autonomic dysfunction. Symmetrical regions of increased T2 signal intensity in the middle cerebellar peduncles and adjacent cerebellar white matter are thought to be highly sensitive for this neurologic condition, and their presence is the radiological inclusion criterion for this series. Molecular findings include elevated mRNA and low-normal or mildly decreased levels of fragile X mental retardation 1 protein. The clinical presentation of these patients, coupled with a specific lesion visible on magnetic resonance imaging and with neuropathological findings, affords a more complete delineation of this fragile X premutation-associated tremor/ataxia syndrome and distinguishes it from other movement disorders.
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U2 - 10.1086/374321
DO - 10.1086/374321
M3 - Article
C2 - 12638084
AN - SCOPUS:0037384643
VL - 72
SP - 869
EP - 878
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 4
ER -