Abstract
Gerstmann-Sträussler-Scheinker disease Pro102Leu (GSS102) is a rare autosomal dominant inherited prion disease due to a substitution of proline for leucine at codon 102 in the Prion Protein gene, and characterized by early walking difficulties and much later occurring dementia. We report clinical, electrophysiological and neuroradiological features of seven novel Italian cases of GSS102. The findings in our series support the thesis that early signs of GSS102 (including areflexia, ataxia, lower limb weakness, and painful dysesthesias) are likely due to a caudal myelopathic process, and suggest that GSS102 should be included among the causes of ataxia with areflexia. Moreover, our observations show that in patients with GSS102, as opposed to Friedreich's ataxia and other forms of ataxia with areflexia, nerve conduction studies and somato-sensory evoked potentials are normal, despite the presence of lower limb areflexia. Hence, in subjects with walking difficulties, the presence of lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive or possibly pathognomonic of GSS102, and can easily guide the clinicians to make the diagnosis of this rare neurodegenerative disease.
| Original language | English |
|---|---|
| Pages (from-to) | 85-88 |
| Number of pages | 4 |
| Journal | Journal of the Neurological Sciences |
| Volume | 302 |
| Issue number | 1-2 |
| DOIs | |
| Publication status | Published - Mar 15 2011 |
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Keywords
- Areflexia
- Ataxia
- H-reflex
- Myelopathy
- Painful dysesthesia
- Prion
ASJC Scopus subject areas
- Clinical Neurology
- Neurology
Cite this
Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann-Sträussler-Scheinker disease Pro102Leu. / Salsano, Ettore; Fancellu, Roberto; Di Fede, Giuseppe; Ciano, Claudia; Scaioli, Vidmer; Nanetti, Lorenzo; Politi, Letterio Salvatore; Tagliavini, Fabrizio; Mariotti, Caterina; Pareyson, Davide.
In: Journal of the Neurological Sciences, Vol. 302, No. 1-2, 15.03.2011, p. 85-88.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann-Sträussler-Scheinker disease Pro102Leu
AU - Salsano, Ettore
AU - Fancellu, Roberto
AU - Di Fede, Giuseppe
AU - Ciano, Claudia
AU - Scaioli, Vidmer
AU - Nanetti, Lorenzo
AU - Politi, Letterio Salvatore
AU - Tagliavini, Fabrizio
AU - Mariotti, Caterina
AU - Pareyson, Davide
PY - 2011/3/15
Y1 - 2011/3/15
N2 - Gerstmann-Sträussler-Scheinker disease Pro102Leu (GSS102) is a rare autosomal dominant inherited prion disease due to a substitution of proline for leucine at codon 102 in the Prion Protein gene, and characterized by early walking difficulties and much later occurring dementia. We report clinical, electrophysiological and neuroradiological features of seven novel Italian cases of GSS102. The findings in our series support the thesis that early signs of GSS102 (including areflexia, ataxia, lower limb weakness, and painful dysesthesias) are likely due to a caudal myelopathic process, and suggest that GSS102 should be included among the causes of ataxia with areflexia. Moreover, our observations show that in patients with GSS102, as opposed to Friedreich's ataxia and other forms of ataxia with areflexia, nerve conduction studies and somato-sensory evoked potentials are normal, despite the presence of lower limb areflexia. Hence, in subjects with walking difficulties, the presence of lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive or possibly pathognomonic of GSS102, and can easily guide the clinicians to make the diagnosis of this rare neurodegenerative disease.
AB - Gerstmann-Sträussler-Scheinker disease Pro102Leu (GSS102) is a rare autosomal dominant inherited prion disease due to a substitution of proline for leucine at codon 102 in the Prion Protein gene, and characterized by early walking difficulties and much later occurring dementia. We report clinical, electrophysiological and neuroradiological features of seven novel Italian cases of GSS102. The findings in our series support the thesis that early signs of GSS102 (including areflexia, ataxia, lower limb weakness, and painful dysesthesias) are likely due to a caudal myelopathic process, and suggest that GSS102 should be included among the causes of ataxia with areflexia. Moreover, our observations show that in patients with GSS102, as opposed to Friedreich's ataxia and other forms of ataxia with areflexia, nerve conduction studies and somato-sensory evoked potentials are normal, despite the presence of lower limb areflexia. Hence, in subjects with walking difficulties, the presence of lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive or possibly pathognomonic of GSS102, and can easily guide the clinicians to make the diagnosis of this rare neurodegenerative disease.
KW - Areflexia
KW - Ataxia
KW - H-reflex
KW - Myelopathy
KW - Painful dysesthesia
KW - Prion
UR - http://www.scopus.com/inward/record.url?scp=79951514895&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79951514895&partnerID=8YFLogxK
U2 - 10.1016/j.jns.2010.11.019
DO - 10.1016/j.jns.2010.11.019
M3 - Article
C2 - 21167505
AN - SCOPUS:79951514895
VL - 302
SP - 85
EP - 88
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1-2
ER -