PMID- 17137837
OWN - NLM
STAT- MEDLINE
DCOM- 20070309
LR  - 20081121
IS  - 1388-2457 (Print)
IS  - 1388-2457 (Linking)
VI  - 118
IP  - 2
DP  - 2007 Feb
TI  - Upper motor neuron involvement in X-linked recessive bulbospinal muscular 
      atrophy.
PG  - 262-8
AB  - OBJECTIVE: Clinicopathological findings of X-linked recessive bulbospinal 
      muscular atrophy (SBMA) are indicative of lower motor neuron and primary sensory 
      neuron involvement. The aim of our study was to investigate the presence of 
      subclinical upper motor neuron (UMN) dysfunction in this disease. METHODS: Two 
      siblings with clinical presentation, routine electrophysiological tests, 
      histopathological features of muscle and nerve biopsies and genetic testing 
      consistent with diagnosis of SBMA underwent transcranial magnetic stimulation 
      (TMS). The analysed parameters were motor evoked potential (MEP) threshold, 
      silent period (SP) and central motor conduction time. Intracortical inhibition 
      with paired pulses from 1 to 6ms interstimulus intervals (ISIs) was evaluated in 
      the older brother. RESULTS: MEP parameters were significantly altered in limb and 
      cranial muscles and MEP suppression after paired stimulation significantly 
      reduced in the older brother. MEP abnormalities were present in one lower limb, 
      but SP abolished in all limbs, in the younger brother. CONCLUSIONS: Subclinical 
      involvement of UMNs may be present in patients affected by SBMA. This finding 
      suggests that the array of neuronal systems whose function may be affected by the 
      pathogenic process of SBMA is larger than it was considered so far. SIGNIFICANCE: 
      TMS is a sensitive diagnostic tool for the identification of UMN dysfunction and 
      should be included in the diagnostic evaluation of patients with SBMA.
FAU - Pachatz, C
AU  - Pachatz C
AD  - Clinica Neurologica, Dipartimento di Neuroscienze, Universita di Roma Tor 
      Vergata, Via Montpellier 1, 00133 Roma, Italy.
FAU - Terracciano, C
AU  - Terracciano C
FAU - Desiato, M T
AU  - Desiato MT
FAU - Orlacchio, A
AU  - Orlacchio A
FAU - Mori, F
AU  - Mori F
FAU - Rocchi, C
AU  - Rocchi C
FAU - Bernardi, G
AU  - Bernardi G
FAU - Massa, R
AU  - Massa R
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20061129
PL  - Netherlands
TA  - Clin Neurophysiol
JT  - Clinical neurophysiology : official journal of the International Federation of 
      Clinical Neurophysiology
JID - 100883319
SB  - IM
MH  - Aged
MH  - Brain/pathology/*physiopathology
MH  - Evoked Potentials, Motor
MH  - Humans
MH  - Male
MH  - Motor Cortex/physiopathology
MH  - Motor Neuron Disease/complications/diagnosis/*physiopathology
MH  - Motor Neurons/*pathology
MH  - Muscle Fibers, Skeletal/pathology
MH  - Muscle, Skeletal/innervation/pathology/physiopathology
MH  - Muscular Atrophy, Spinal/complications/diagnosis/*physiopathology
MH  - Neural Conduction
MH  - Neural Pathways/*physiopathology
MH  - Predictive Value of Tests
MH  - Reaction Time
MH  - Siblings
MH  - Transcranial Magnetic Stimulation
EDAT- 2006/12/02 09:00
MHDA- 2007/03/10 09:00
CRDT- 2006/12/02 09:00
PHST- 2006/01/17 00:00 [received]
PHST- 2006/09/25 00:00 [revised]
PHST- 2006/10/01 00:00 [accepted]
PHST- 2006/12/02 09:00 [pubmed]
PHST- 2007/03/10 09:00 [medline]
PHST- 2006/12/02 09:00 [entrez]
AID - S1388-2457(06)01476-3 [pii]
AID - 10.1016/j.clinph.2006.10.006 [doi]
PST - ppublish
SO  - Clin Neurophysiol. 2007 Feb;118(2):262-8. doi: 10.1016/j.clinph.2006.10.006. Epub 
      2006 Nov 29.