Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann–Sträussler–Scheinker disease Pro102Leu

Salsano, Ettore; Fancellu, Roberto; Fede, Giuseppe Di; Ciano, Claudia; Scaioli, V.; Nanetti, Lorenzo; Politi, Letterio S.; Tagliavini, Fabrizio; Mariotti, Caterina; Pareyson, Davide

doi:10.1016/j.jns.2010.11.019

Cited by 7 publications

(4 citation statements)

References 11 publications

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“…The present study showed no evidence of abnormal peripheral nerve dysfunction. The loss of the H reflex is consistent with damage proximal to the dorsal root ganglion or within the lumbar spinal cord involving the Aα afferent pathway to the anterior horn cells; an earlier study came to the same conclusion (Salsano et al , 2011). The abnormal thermal detection thresholds indicate an abnormality in the spinothalamic pathways between the periphery and the cerebral cortex; peripheral cold detection is dependent on Aδ fibres while hot detection is mediated by C fibres (Fowler et al , 1988).…”

Section: Discussionsupporting

confidence: 55%

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Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease

Rudge

Jaunmuktane

Hyare

et al. 2019

Brain

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A common presentation of the P102L prion protein mutation is Gerstmann-Straussler-Scheinker syndrome. Rudge et al. show that serial measurement of lower limb thermal thresholds predicts, within a relatively narrow time window, conversion to the symptomatic phase of the disease, and that synaptic deposition of PrP Sc in the spinal cord underpins the pathology.

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Section: Discussionsupporting

confidence: 55%

“…Interestingly, thermal threshold testing was abnormal in the lower limbs in the one patient tested. Further neurophysiological studies have been reported in seven patients (Salsano et al , 2011). The only abnormality in this series was a loss of the H reflex in the lower limbs in the four who were tested reflecting the areflexia.…”

Section: Introductionmentioning

confidence: 91%

Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease

Rudge

Jaunmuktane

Hyare

et al. 2019

Brain

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“…No notable abnormality was observed in NCS and SSEP of patients 1 and 2, which indicated that their muscle weakness was associated with brain involvement. It has been proposed that the presence of lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive or possibly pathognomonic of GSS102 [16]. Deep tendon reflexes generally are a simple monosynaptic stimulation of alpha motor neurons through the Ia fibers, which is evoked by the muscle spindle stimulated by extension of the muscle.…”

Section: Discussionmentioning

confidence: 99%

Correlation between clinical and radiologic features of patients with Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu)

Yoshimura

Yuan

Higashi

et al. 2018

Journal of the Neurological Sciences

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Clinical symptoms resulting from failure of dorsal horn of spinal cord and spinocerebellar tracts were observed in all cases. Radiologic findings revealed individual differences of involved region in their brain, which could produce clinical diversity. We identified a downtrend of blood flow in the anterior cerebellar lobes, a projection field of the spinocerebellar tracts, which is an important feature of Gerstmann-Sträussler-Scheinker syndrome.

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“…Gerstmann-Sträussler-Scheinker syndrome is an inherited autosomal dominant prion disease, caused by a codon 102 proline to leucine substitution (P102L) in the prion protein gene (PRNP) (Takazawa et al 2010, Salsano et al, 2011Collins et al, 2001;Asante et al, 2015). Since GSS was first linked to a P102L mutation in PRNP, a variety of mutations in the allele on chromosome 20 have been described in association with this disorder (Collins et al, 2001;Asante et al, 2015;Webb et al, 2008).…”

Section: Introductionmentioning

confidence: 99%

Quantitative, functional MRI and neurophysiological markers in a case of Gerstmann-Str�ussler-Scheinker syndrome

Marıno

Morabito

Salvo

et al. 2017

Functional Neurology

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SummaryGerstmann-Sträussler-Scheinker syndrome (GSS) is an inherited autosomal dominant prion disease, caused by a codon 102 proline to leucine substitution (P102L) in the prion protein gene (PRNP). We describe the case of a 40-year-old male, affected by a slowly progressive gait disturbance, leg weakness and cognitive impairment. Genomic DNA revealed a point mutation of PRNP at codon 102, resulting in P102L, and the diagnosis of GSS was confirmed. Somatosensory evoked potentials showed alterations of principal parameters, particularly in the right upper and lower limbs. Laser-evoked potentials were indicative of nociceptive system impairment, especially in the right upper and lower limbs. Conventional magnetic resonance imaging (MRI) revealed marked atrophy of the vermis and cerebellar hemispheres and mild atrophy of the middle cerebellar peduncles and brainstem, as confirmed by a brain volume automatic analysis. Resting-state functional MRI showed increased functional connectivity in the bilateral visual cortex, and decreased functional connectivity in the bilateral frontal pole and supramarginal and precentral gyrus. Albeit limited to a single case, this is the first study to assess structural and functional connectivity in GSS using a multimodal approach.

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Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann–Sträussler–Scheinker disease Pro102Leu

Cited by 7 publications

References 11 publications

Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease

Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease

Correlation between clinical and radiologic features of patients with Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu)

Quantitative, functional MRI and neurophysiological markers in a case of Gerstmann-Str�ussler-Scheinker syndrome

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