Literature DB >> 29804168

Quantification of dysarthrοphonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutation.

Kostas Konstantopoulos1,2, Eleni Zamba-Papanicolaou3,4, Kyproula Christodoulou5,4.   

Abstract

BACKGROUND: Dysarthrophonia is often reported by hereditary spastic paraplegia (HSP) patients with SPG11 mutations but it has been poorly investigated.
OBJECTIVE: The goal of this study was to investigate dysarthrophonia in SPG11 patients using quantitative measures. The voice/speech of two patients and a non-affected mutation carrier was recorded and analyzed using electroglottography (EGG) and speech acoustics.
RESULTS: Dysarthrophonia showed a higher standard deviation of the average fundamental frequency, a three to eight times higher jitter, a 80-110 Hz higher mean fundamental frequency, and a two times higher fundamental frequency range. Diadochokinesis showed a pattern of a two to three times increase in the mean duration of the release burst of the phonemes /p/, /t/, /k/ as well as a 1.5 time increase in the mean vowel duration of the syllables /pa/, /ta/, /ka/.
CONCLUSION: Non-invasive physiological methods (EGG and speech acoustics) offer essential tools for the assessment of dysarthrophonia in SPG11 patients.

Entities:  

Keywords:  Acoustics; Dysarthrophonia; Electroglottography; Hereditary spastic paraplegia

Mesh:

Substances:

Year:  2018        PMID: 29804168     DOI: 10.1007/s10072-018-3453-8

Source DB:  PubMed          Journal:  Neurol Sci        ISSN: 1590-1874            Impact factor:   3.307


  14 in total

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Authors:  M F Folstein; S E Folstein; P R McHugh
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Review 3.  Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.

Authors:  Paulo Victor Sgobbi de Souza; Wladimir Bocca Vieira de Rezende Pinto; Gabriel Novaes de Rezende Batistella; Thiago Bortholin; Acary Souza Bulle Oliveira
Journal:  Cerebellum       Date:  2017-04       Impact factor: 3.847

4.  A quantitative method for the assessment of dysarthrophonia in myasthenia gravis.

Authors:  Kostas Konstantopoulos; Yiolanda-Panayiota Christou; Paris Vogazianos; Eleni Zamba-Papanicolaou; Kleopas A Kleopa
Journal:  J Neurol Sci       Date:  2017-03-31       Impact factor: 3.181

Review 5.  Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.

Authors:  Josef Finsterer; Wolfgang Löscher; Stefan Quasthoff; Julia Wanschitz; Michaela Auer-Grumbach; Giovanni Stevanin
Journal:  J Neurol Sci       Date:  2012-05-01       Impact factor: 3.181

6.  Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

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Journal:  Brain       Date:  2007-12-13       Impact factor: 13.501

7.  The existence of phonatory instability in multiple sclerosis: an acoustic and electroglottographic study.

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8.  Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.

Authors:  Ute Hehr; Peter Bauer; Beate Winner; Rebecca Schule; Akguen Olmez; Wolfgang Koehler; Goekhan Uyanik; Anna Engel; Daniela Lenz; Andrea Seibel; Andreas Hehr; Sonja Ploetz; Josep Gamez; Arndt Rolfs; Joachim Weis; Thomas M Ringer; Michael Bonin; Gerhard Schuierer; Joerg Marienhagen; Ulrich Bogdahn; Bernhard H F Weber; Haluk Topaloglu; Ludger Schols; Olaf Riess; Juergen Winkler
Journal:  Ann Neurol       Date:  2007-12       Impact factor: 10.422

Review 9.  Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

Authors:  John K Fink
Journal:  Acta Neuropathol       Date:  2013-07-30       Impact factor: 17.088

10.  Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

Authors:  Giovanni Stevanin; Filippo M Santorelli; Hamid Azzedine; Paula Coutinho; Jacques Chomilier; Paola S Denora; Elodie Martin; Anne-Marie Ouvrard-Hernandez; Alessandra Tessa; Naïma Bouslam; Alexander Lossos; Perrine Charles; José L Loureiro; Nizar Elleuch; Christian Confavreux; Vítor T Cruz; Merle Ruberg; Eric Leguern; Djamel Grid; Meriem Tazir; Bertrand Fontaine; Alessandro Filla; Enrico Bertini; Alexandra Durr; Alexis Brice
Journal:  Nat Genet       Date:  2007-02-18       Impact factor: 38.330

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1.  Validation of the revised Amyotrophic Lateral Sclerosis Functional Rating Scale in Poland and its reliability in conditions of the medical experiment.

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Journal:  Neurol Sci       Date:  2020-07-16       Impact factor: 3.307

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