Motor neuron dysfunctions in the frontotemporal lobar degeneration spectrum: A clinical and neurophysiological study

C. Cerami, A. Marcone, C. Crespi, S. Iannaccone, C. Marangoni, A. Dodich, M. C. Giusti, M. Zamboni, V. Golzi, S. F. Cappa

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Background Although only a few frontotemporal lobar degeneration (FTLD) patients develop frank amyotrophic lateral sclerosis (ALS), motor neuron dysfunctions (MNDys) occur in a larger proportion of patients. The aim of this study is to evaluate MNDys and ALS in a sample of consecutively enrolled sporadic FTLD patients. Methods Clinical and neurophysiological evaluations (i.e. needle electromyography) assessed lower (LMN) and upper (UMN) motor neuron function at the baseline in 70 probable FTLD patients (i.e., 26 behavioural variant-bvFTD, 20 primary progressive aphasias-PPAs and 24 corticobasal syndrome-CBS). To obtain a more accurate estimation, quantitative scales were also applied (i.e. ALSFRS-r and UMN scale). Patients were screened for MAPT, GRN and C9orf72 mutations. A mean clinical follow-up of 27.8 ± 22.4 months assessed MNDys progression and the clinical presentation of ALS. Results Five genetic cases were identified. Within the sample of sporadic patients, a relative low rate of FTLD patients was diagnosed as probable ALS (5%), while a higher proportion of patients (17%) showed clinical and neurophysiological MNDys. Thirteen patients (20%) presented with isolated clinical signs of LMN and/or UMN dysfunction, and 8 patients (12%) showed neurogenic changes at the electromyography. No differences in FTLD phenotype and disease duration were found between MNDys positive and negative patients. Clinical MNDys were highly associated with positive electromyographic findings. At follow-up, no MNDys positive patient developed ALS. Conclusion Neurophysiological and clinical examinations revealed mild MNDys in FTLD patients not fulfilling criteria for ALS. This condition did not evolve at a mean follow-up of two years. These results, indicating a subclinical degeneration of corticospinal tracts and lower motor neurons, suggest that FTLD patients may be more at risk of MNDys than the general population.

Original languageEnglish
Pages (from-to)72-77
Number of pages6
JournalJournal of the Neurological Sciences
Volume351
Issue number1-2
DOIs
Publication statusPublished - Apr 15 2015

Fingerprint

Frontotemporal Lobar Degeneration
Motor Neurons
Amyotrophic Lateral Sclerosis
Electromyography
Clinical Studies
Primary Progressive Aphasia
Pyramidal Tracts

Keywords

  • Amyotrophic lateral sclerosis
  • Electromyography
  • Frontotemporal dementia
  • Frontotemporal lobar degeneration
  • Motor neuron dysfunction
  • Pyramidal signs

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

Cite this

Motor neuron dysfunctions in the frontotemporal lobar degeneration spectrum : A clinical and neurophysiological study. / Cerami, C.; Marcone, A.; Crespi, C.; Iannaccone, S.; Marangoni, C.; Dodich, A.; Giusti, M. C.; Zamboni, M.; Golzi, V.; Cappa, S. F.

In: Journal of the Neurological Sciences, Vol. 351, No. 1-2, 15.04.2015, p. 72-77.

Research output: Contribution to journalArticle

Cerami, C. ; Marcone, A. ; Crespi, C. ; Iannaccone, S. ; Marangoni, C. ; Dodich, A. ; Giusti, M. C. ; Zamboni, M. ; Golzi, V. ; Cappa, S. F. / Motor neuron dysfunctions in the frontotemporal lobar degeneration spectrum : A clinical and neurophysiological study. In: Journal of the Neurological Sciences. 2015 ; Vol. 351, No. 1-2. pp. 72-77.
@article{2cdf700ccc754e8bb7d89fdce7c3615c,
title = "Motor neuron dysfunctions in the frontotemporal lobar degeneration spectrum: A clinical and neurophysiological study",
abstract = "Background Although only a few frontotemporal lobar degeneration (FTLD) patients develop frank amyotrophic lateral sclerosis (ALS), motor neuron dysfunctions (MNDys) occur in a larger proportion of patients. The aim of this study is to evaluate MNDys and ALS in a sample of consecutively enrolled sporadic FTLD patients. Methods Clinical and neurophysiological evaluations (i.e. needle electromyography) assessed lower (LMN) and upper (UMN) motor neuron function at the baseline in 70 probable FTLD patients (i.e., 26 behavioural variant-bvFTD, 20 primary progressive aphasias-PPAs and 24 corticobasal syndrome-CBS). To obtain a more accurate estimation, quantitative scales were also applied (i.e. ALSFRS-r and UMN scale). Patients were screened for MAPT, GRN and C9orf72 mutations. A mean clinical follow-up of 27.8 ± 22.4 months assessed MNDys progression and the clinical presentation of ALS. Results Five genetic cases were identified. Within the sample of sporadic patients, a relative low rate of FTLD patients was diagnosed as probable ALS (5{\%}), while a higher proportion of patients (17{\%}) showed clinical and neurophysiological MNDys. Thirteen patients (20{\%}) presented with isolated clinical signs of LMN and/or UMN dysfunction, and 8 patients (12{\%}) showed neurogenic changes at the electromyography. No differences in FTLD phenotype and disease duration were found between MNDys positive and negative patients. Clinical MNDys were highly associated with positive electromyographic findings. At follow-up, no MNDys positive patient developed ALS. Conclusion Neurophysiological and clinical examinations revealed mild MNDys in FTLD patients not fulfilling criteria for ALS. This condition did not evolve at a mean follow-up of two years. These results, indicating a subclinical degeneration of corticospinal tracts and lower motor neurons, suggest that FTLD patients may be more at risk of MNDys than the general population.",
keywords = "Amyotrophic lateral sclerosis, Electromyography, Frontotemporal dementia, Frontotemporal lobar degeneration, Motor neuron dysfunction, Pyramidal signs",
author = "C. Cerami and A. Marcone and C. Crespi and S. Iannaccone and C. Marangoni and A. Dodich and Giusti, {M. C.} and M. Zamboni and V. Golzi and Cappa, {S. F.}",
year = "2015",
month = "4",
day = "15",
doi = "10.1016/j.jns.2015.02.039",
language = "English",
volume = "351",
pages = "72--77",
journal = "Journal of the Neurological Sciences",
issn = "0022-510X",
publisher = "Elsevier",
number = "1-2",

}

TY - JOUR

T1 - Motor neuron dysfunctions in the frontotemporal lobar degeneration spectrum

T2 - A clinical and neurophysiological study

AU - Cerami, C.

AU - Marcone, A.

AU - Crespi, C.

AU - Iannaccone, S.

AU - Marangoni, C.

AU - Dodich, A.

AU - Giusti, M. C.

AU - Zamboni, M.

AU - Golzi, V.

AU - Cappa, S. F.

PY - 2015/4/15

Y1 - 2015/4/15

N2 - Background Although only a few frontotemporal lobar degeneration (FTLD) patients develop frank amyotrophic lateral sclerosis (ALS), motor neuron dysfunctions (MNDys) occur in a larger proportion of patients. The aim of this study is to evaluate MNDys and ALS in a sample of consecutively enrolled sporadic FTLD patients. Methods Clinical and neurophysiological evaluations (i.e. needle electromyography) assessed lower (LMN) and upper (UMN) motor neuron function at the baseline in 70 probable FTLD patients (i.e., 26 behavioural variant-bvFTD, 20 primary progressive aphasias-PPAs and 24 corticobasal syndrome-CBS). To obtain a more accurate estimation, quantitative scales were also applied (i.e. ALSFRS-r and UMN scale). Patients were screened for MAPT, GRN and C9orf72 mutations. A mean clinical follow-up of 27.8 ± 22.4 months assessed MNDys progression and the clinical presentation of ALS. Results Five genetic cases were identified. Within the sample of sporadic patients, a relative low rate of FTLD patients was diagnosed as probable ALS (5%), while a higher proportion of patients (17%) showed clinical and neurophysiological MNDys. Thirteen patients (20%) presented with isolated clinical signs of LMN and/or UMN dysfunction, and 8 patients (12%) showed neurogenic changes at the electromyography. No differences in FTLD phenotype and disease duration were found between MNDys positive and negative patients. Clinical MNDys were highly associated with positive electromyographic findings. At follow-up, no MNDys positive patient developed ALS. Conclusion Neurophysiological and clinical examinations revealed mild MNDys in FTLD patients not fulfilling criteria for ALS. This condition did not evolve at a mean follow-up of two years. These results, indicating a subclinical degeneration of corticospinal tracts and lower motor neurons, suggest that FTLD patients may be more at risk of MNDys than the general population.

AB - Background Although only a few frontotemporal lobar degeneration (FTLD) patients develop frank amyotrophic lateral sclerosis (ALS), motor neuron dysfunctions (MNDys) occur in a larger proportion of patients. The aim of this study is to evaluate MNDys and ALS in a sample of consecutively enrolled sporadic FTLD patients. Methods Clinical and neurophysiological evaluations (i.e. needle electromyography) assessed lower (LMN) and upper (UMN) motor neuron function at the baseline in 70 probable FTLD patients (i.e., 26 behavioural variant-bvFTD, 20 primary progressive aphasias-PPAs and 24 corticobasal syndrome-CBS). To obtain a more accurate estimation, quantitative scales were also applied (i.e. ALSFRS-r and UMN scale). Patients were screened for MAPT, GRN and C9orf72 mutations. A mean clinical follow-up of 27.8 ± 22.4 months assessed MNDys progression and the clinical presentation of ALS. Results Five genetic cases were identified. Within the sample of sporadic patients, a relative low rate of FTLD patients was diagnosed as probable ALS (5%), while a higher proportion of patients (17%) showed clinical and neurophysiological MNDys. Thirteen patients (20%) presented with isolated clinical signs of LMN and/or UMN dysfunction, and 8 patients (12%) showed neurogenic changes at the electromyography. No differences in FTLD phenotype and disease duration were found between MNDys positive and negative patients. Clinical MNDys were highly associated with positive electromyographic findings. At follow-up, no MNDys positive patient developed ALS. Conclusion Neurophysiological and clinical examinations revealed mild MNDys in FTLD patients not fulfilling criteria for ALS. This condition did not evolve at a mean follow-up of two years. These results, indicating a subclinical degeneration of corticospinal tracts and lower motor neurons, suggest that FTLD patients may be more at risk of MNDys than the general population.

KW - Amyotrophic lateral sclerosis

KW - Electromyography

KW - Frontotemporal dementia

KW - Frontotemporal lobar degeneration

KW - Motor neuron dysfunction

KW - Pyramidal signs

UR - http://www.scopus.com/inward/record.url?scp=84926407860&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84926407860&partnerID=8YFLogxK

U2 - 10.1016/j.jns.2015.02.039

DO - 10.1016/j.jns.2015.02.039

M3 - Article

C2 - 25770877

AN - SCOPUS:84926407860

VL - 351

SP - 72

EP - 77

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

IS - 1-2

ER -