Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS).
Fragile X tremor/ataxia syndrome (FXTAS) occurs in individuals with moderate CGG expansion of the fragile X mental retardation 1 (FMR1) gene and is associated with intranuclear inclusions in neurons and astrocytes. Although the neuropathologic findings in the brain and spinal cord were described, pathological features in the peripheral nervous system were not reported. Here, we report on novel neuropathological findings in the peripheral nervous system and especially in autonomic ganglia at autopsy in a man with FXTAS. In addition to the characteristic brain and spinal cord findings, typical intranuclear inclusions were identified in the ganglion cells of adrenal medulla, dorsal root ganglia, paraspinal sympathetic ganglia, myenteric ganglia of the stomach and subepicardial autonomic ganglion of the heart. Our findings indicate that FXTAS diffusely involves the central and peripheral nervous systems, which explains the protean neurological symptoms ranging from dementia to dysautonomia.
Gokden
Murat
M
Department of Pathology, University of Arkansas for Medical Sciences, 4301 West Markham Street # 517, Little Rock, AR 72205, USA. mgokden@uams.edu
Al-Hinti
Jomana T
JT
Harik
Sami I
SI
D000368:Aged; D001253:Astrocytes / Q000473:pathology / Q000648:ultrastructure; D001259:Ataxia / Q000473:pathology*; D001921:Brain / Q000473:pathology; D005600:Fragile X Syndrome / Q000473:pathology*; D005725:Ganglia, Autonomic / Q000473:pathology / Q000648:ultrastructure; D006801:Humans; D008297:Male; D009186:Myelin Sheath / Q000473:pathology / Q000648:ultrastructure; D009474:Neurons / Q000473:pathology / Q000648:ultrastructure; D017933:Peripheral Nervous System / Q000473:pathology* / Q000648:ultrastructure; D013116:Spinal Cord / Q000473:pathology