Hand muscles corticomotor excitability in hereditary spastic paraparesis type 4

Transcranial magnetic stimulation (TMS) studies on the pathways to the upper limbs have revealed inconsistent results in patients harboring mutations in SPAST/SPG4 gene, responsible for the commonest form of hereditary spastic paraplegia (HSP). This paper is addressed to study the corticomotor excit...

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Bibliographic Details
Published in:Neurological sciences 2014-08, Vol.35 (8), p.1287-1291
Main Authors: Ginanneschi, Federica, Carluccio, Maria A., Mignarri, Andrea, Tessa, Alessandra, Santorelli, Filippo M., Rossi, Alessandro, Federico, Antonio, Dotti, Maria T.
Format: Article
Language:English
Subjects:
Adenosine Triphosphatases - genetics
Aged
Case-Control Studies
Evoked Potentials, Motor
Female
Genes, Dominant
Hand - innervation
Humans
Male
Medicine
Medicine & Public Health
Middle Aged
Motor Cortex - physiopathology
Muscle, Skeletal - innervation
Neural Conduction
Neuroimaging
Neurology
Neuroradiology
Neurosciences
Neurosurgery
Original Article
Prospective Studies
Psychiatry
Reflex, Abnormal
Spastic Paraplegia, Hereditary - diagnosis
Spastic Paraplegia, Hereditary - genetics
Spastic Paraplegia, Hereditary - physiopathology
Spastin
Transcranial Magnetic Stimulation
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Summary:Transcranial magnetic stimulation (TMS) studies on the pathways to the upper limbs have revealed inconsistent results in patients harboring mutations in SPAST/SPG4 gene, responsible for the commonest form of hereditary spastic paraplegia (HSP). This paper is addressed to study the corticomotor excitability of the pathways to the upper limbs in SPG4 subjects. We assessed the corticomotor excitability of hand muscles in 12 subjects belonging to 7 unrelated SPG4 families and in 12 control subjects by stimulus–response curve [input–output (I–O) curve]. All the parameters of the recruitment curve (threshold, V50, slope and plateau) did not differ significantly from those of the controls. Presence of upper limb hyper-reflexia did not influence the results of I–O curve. Considering the multiplicity of possible genes/loci accounting for pure HSPs, performing TMS analyses could be helpful in differential diagnosis of pure HSPs in the absence of other clinical or neuroimaging tools.
ISSN:1590-1874
1590-3478
DOI:10.1007/s10072-014-1707-7