Abstract
Friedreich's ataxia (FA) is the most frequent early onset recessive ataxia. Ataxia clinical progression is slow, but the majority of patients is wheelchair-bound before 30 years of age. Some studies suggested that the peripheral sensory neuropathy was a dynamic process that could explain the clinical worsening. In 1983 an electrophysiological and histological study showed peripheral nerve axonal degeneration unrelated to disease duration or severity. A follow-up study confirmed that symptom progression is independent from peripheral neuropathy that is not progressive. A defective development of the largest neurons of the dorsal ganglion was supposed. When the unstable GAA expansion in the X25 gene was identified as the responsible mutation in the majority of FA patients, genotype-phenotype correlation studies were performed. A direct correlation between GAA expansion and involvement of peripheral nerve sensory fibers and central somatosensory pathway was shown. Disease duration correlates with pyramidal, auditory and visual pathway involvement, while the GAA expansion size has no effect.
| Original language | English |
|---|---|
| Journal | Neurological Sciences |
| Volume | 22 |
| Issue number | SUPPL. 1 |
| Publication status | Published - 2001 |
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Keywords
- Friedreich's ataxia
- Genetics
- Pathophysiology
- Peripheral neuropathy
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)
- Psychiatry and Mental health
- Dermatology
Cite this
Electrophysiological contribution to understanding the pathophysiology of Friedreich's ataxia. / Perretti, A.; Lanzillo, B.; Crisci, C.; Santoro, L.
In: Neurological Sciences, Vol. 22, No. SUPPL. 1, 2001.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Electrophysiological contribution to understanding the pathophysiology of Friedreich's ataxia
AU - Perretti, A.
AU - Lanzillo, B.
AU - Crisci, C.
AU - Santoro, L.
PY - 2001
Y1 - 2001
N2 - Friedreich's ataxia (FA) is the most frequent early onset recessive ataxia. Ataxia clinical progression is slow, but the majority of patients is wheelchair-bound before 30 years of age. Some studies suggested that the peripheral sensory neuropathy was a dynamic process that could explain the clinical worsening. In 1983 an electrophysiological and histological study showed peripheral nerve axonal degeneration unrelated to disease duration or severity. A follow-up study confirmed that symptom progression is independent from peripheral neuropathy that is not progressive. A defective development of the largest neurons of the dorsal ganglion was supposed. When the unstable GAA expansion in the X25 gene was identified as the responsible mutation in the majority of FA patients, genotype-phenotype correlation studies were performed. A direct correlation between GAA expansion and involvement of peripheral nerve sensory fibers and central somatosensory pathway was shown. Disease duration correlates with pyramidal, auditory and visual pathway involvement, while the GAA expansion size has no effect.
AB - Friedreich's ataxia (FA) is the most frequent early onset recessive ataxia. Ataxia clinical progression is slow, but the majority of patients is wheelchair-bound before 30 years of age. Some studies suggested that the peripheral sensory neuropathy was a dynamic process that could explain the clinical worsening. In 1983 an electrophysiological and histological study showed peripheral nerve axonal degeneration unrelated to disease duration or severity. A follow-up study confirmed that symptom progression is independent from peripheral neuropathy that is not progressive. A defective development of the largest neurons of the dorsal ganglion was supposed. When the unstable GAA expansion in the X25 gene was identified as the responsible mutation in the majority of FA patients, genotype-phenotype correlation studies were performed. A direct correlation between GAA expansion and involvement of peripheral nerve sensory fibers and central somatosensory pathway was shown. Disease duration correlates with pyramidal, auditory and visual pathway involvement, while the GAA expansion size has no effect.
KW - Friedreich's ataxia
KW - Genetics
KW - Pathophysiology
KW - Peripheral neuropathy
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M3 - Article
AN - SCOPUS:25444486082
VL - 22
JO - Neurological Sciences
JF - Neurological Sciences
SN - 1590-1874
IS - SUPPL. 1
ER -