New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease).
OBJECTIVE
This review summarizes recent neuropathological findings in spinocerebellar ataxia type 3 and discusses their relevance for clinical neurology.


RESULTS
The extent of the spinocerebellar ataxia type 3 related central nervous neurodegenerative changes has been recently systematically investigated in a series of pathoanatomical studies. These studies showed that the extent of the central nervous degenerative changes of spinocerebellar ataxia type 3 has been underestimated so far. The newly described pattern of central nervous neurodegeneration includes the visual, auditory, vestibular, somatosensory, ingestion-related, dopaminergic and cholinergic systems. These pathological findings were correlated with clinical findings and explain a variety of the spinocerebellar ataxia type 3 symptoms observed in clinical practice.


CONCLUSIONS
Systematic pathoanatomical analysis of spinocerebellar ataxia type 3 brains helps to understand the structural basis of this neurodegenerative disease and offers explanations for a variety of disease symptoms. This better understanding of the neuropathology of the condition has implications for the treatment of spinocerebellar ataxia type 3 patients and represents a basis for further biochemical and molecular biological studies aimed at deciphering the pathomechanisms of this progressive ataxic disorder.
Rüb
Udo
U
Institute for Clinical Neuroanatomy, J. W. Goethe-University, D-60590 Frankfurt/Main, Germany. Drueb@gmx.de
Brunt
Ewout R
ER
Deller
Thomas
T
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001921:Brain / Q000473:pathology* / Q000503:physiopathology; D003937:Diagnosis, Differential; D018450:Disease Progression; D006801:Humans; D017827:Machado-Joseph Disease / Q000473:pathology* / Q000503:physiopathology; D008875:Middle Aged; D009410:Nerve Degeneration / Q000473:pathology / Q000503:physiopathology; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009434:Neural Pathways / Q000473:pathology / Q000503:physiopathology; D009474:Neurons / Q000378:metabolism / Q000473:pathology*; D018377:Neurotransmitter Agents / Q000378:metabolism
D018377:Neurotransmitter Agents