title: Hand muscles corticomotor excitability in hereditary spastic paraparesis type 4.
abstract: 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.
authors.affiliation: Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Ginanneschi
authors.forename: Maria A
authors.initials: MA
authors.lastname: Carluccio
authors.forename: Andrea
authors.initials: A
authors.lastname: Mignarri
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tessa
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Alessandro
authors.initials: A
authors.lastname: Rossi
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
authors.forename: Maria T
authors.initials: MT
authors.lastname: Dotti
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D000368:Aged; D016022:Case-Control Studies; D019054:Evoked Potentials, Motor; D005260:Female; D005799:Genes, Dominant; D006225:Hand / Q000294:innervation*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009044:Motor Cortex / Q000503:physiopathology*; D018482:Muscle, Skeletal / Q000294:innervation*; D009431:Neural Conduction; D059906:Neuroimaging; D011446:Prospective Studies; D012021:Reflex, Abnormal; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D000074181:Spastin; D050781:Transcranial Magnetic Stimulation
chemical_list: D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human