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Stuttering and Tay-Sachs

Stuttering and Tay-Sachs

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Published by sign2804
Three cases in which stutter was the initial presentation of LOTS, indicating that childhood stutter can be a harbinger of LOTS and that stutter may occur more frequently in LOTS than previously appreciated. The observation that stutter can be the sole initial clinical manifestation of LOTS suggests a biochemical vulnerability of the neural networks involved in speech production to the toxicity of ganglioside accumulation.
Three cases in which stutter was the initial presentation of LOTS, indicating that childhood stutter can be a harbinger of LOTS and that stutter may occur more frequently in LOTS than previously appreciated. The observation that stutter can be the sole initial clinical manifestation of LOTS suggests a biochemical vulnerability of the neural networks involved in speech production to the toxicity of ganglioside accumulation.

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Published by: sign2804 on Feb 10, 2009
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J. Neurol. Neurosurg. Psychiatry 
B E Shapiro and M R Natowicz
childhood stutterLate-onset TaySachs disease presenting as a
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Psychogenic aphonia: spectacularrecovery after motor cortextranscranial magnetic stimulation
Psychogenic aphonia is a disabling conver-sion disorder with no standard psychother-apeutic
or speech-therapeutic treatment.
 We present here a case report describing apromising new treatment for this disorderbased on repetitive transcranial magneticstimulation (rTMS). A left-handed 18-year-old woman devel-oped a sudden total loss of normal speechproduction which was preceded by hoarse-ness. Coughing and syllabic ‘‘trillo’’ phona-tion were normal, indicating normalarticulatory ability. An otolaryngologicalexamination noted a normal larynx with nosign of lesion or vocal cord palsy, andvideostroboscopic examination showed novocal-cord adduction except during coughing.Neurological examination and brain MRIwere normal. The patient reported moderatefamilial conflict and academic problems.Psychological evaluation revealed chronicanxiety. Thirty sessions of speech therapy produce no improvement. The conversiondisorder persisted for 20 months. As a finaltreatment, two rTMS sessions of 150 sduration (50 stimuli delivered at 0.33 Hz,and maximal intensity of 2.5 Tesla) wereattempted with a circular coil (P/N 9784-00).The first magnetic stimulation was applied tothe left prefrontal cortex with no effect. Oneweek later, a second rTMS session wasapplied to the right motor cortex with adramatic and immediate improvement, lead-ing to a normal speech within a few days, andstill normal at 6 monthsfollow-up. Weattributed the clinical improvement to therTMS, and not to a placebo effect (lack of effect with prefrontal cortex rTMS), or thenatural course of the illness.Functional MRI studies have demon-strated a reversible decreased activation of contralateral primary motor
or somatosen-sory cortex
in conversion disorder patients,with motor and sensory symptoms respec-tively. An abnormal activation of the orbi-tofrontal and anterior cingulate cortex hasalso been observed.
The physiopathology of conversion symptoms could be explained by an active inhibition of these two prefrontalareas on primary motor areas.
The modulation of cortical excitability by rTMS could be a powerful new therapy forconversion disorders. In the past, patientswith non-organic limb paralysis have beentreated with 15 Hz rTMS sessions of motorcortex for 5–12 weeks,
with variable bene-fits. Here, we hypothesise that they haveactivated the depressed motor cortex withexcitatory high-frequency rTMS. On thecontrary, in our aphonic patient, recovery was total with only one session olow-frequency rTMS. We have possiblblocked the active inhibition of the motorcortex with inhibitory low-frequency rTMS.This spectacular effect could also beexplained by an important laryngeal mus-cular activation produced by the motorcortex stimulation and not by the prefrontalcortex stimulation.Motor cortex rTMS could be a therapeuticoption for psychogenic aphonia, and perhapsfor other motor conversion disorders. To ourknowledge, this is the first description of psychogenic aphonia rTMS treatment. Thepotential benefit of such treatment shouldbe evaluated in a randomised controlled trialversus placebo.
N Chastan,
D Parain,
E Ve´rin,
J Weber,
M A Faure,
J-P Marie
Department of Neurophysiology, Rouen University Hospital,University of Rouen, France;
Department of Physiology,Rouen University Hospital & UPRES-EA 3830-GRHV,University of Rouen, France;
Phonatrician, Paris, France;
Department of Otolaryngology, Rouen University Hospital, &UPRES-EA 3830-GRHV, University of Rouen, France
Correspondence to:
Professor J-P Marie, CHU de Rouen,Service d’ORL, De´ve´ 1
e´tage, 1 rue de Germont, 76031Rouen cedex, France; jean-paul.marie@chu-rouen.fr
Competing interests:
See Editorial Commentary, p 4
Received 20 May 2008Revised 18 September 2008Accepted 22 September 2008
 J Neurol Neurosurg Psychiatry 
Butcher P.
Psychological processes in psychogenicvoice disorder.
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Maniecka-Aleksandrowicz B,
Domeracka-KolodziejA, Rozak-Komorowska A,
et al 
. Management andtherapy in functional aphonia: analysis of 500 cases.
Otolaryngol Pol 
Burgmer M,
Konrad C, Jansen A,
et al 
. Abnormalbrain activation during movement observation inpatients with conversion paralysis.
Ghaffar O,
Staines WR, Feinstein A. Unexplainedneurologic symptoms: an fMRI study of sensoryconversion disorder.
Marshall JC,
Halligan PW, Fink GR,
et al 
. Thefunctional anatomy of a hysterical paralysis.
Hurwitz TA,
Prichard JW. Conversion disorder andfMRI.
Schonfeldt-Lecuona C,
Connemann BJ, Viviani R,
et  al 
. Transcranial magnetic stimulation in motorconversion disorder: a short case series.
J Clin Neurophysiol 
Late-onset Tay–Sachs diseasepresenting as a childhood stutter
Late-onset Tay–Sachs disease (LOTS) is arare lysosomal storage disorder caused by deficient beta-hexosaminidase A (HEXA)activity. Toxicity results from the accumu-lation of gangliosides in the central nervoussystem. In juvenile-onset forms, patientspresent in childhood with progres-sive incoordination and/or developmentalregression; in the ‘‘chronic’’ or ‘‘adult-onset’’forms, patients present from childhoodthrough early adulthood with weakness,ataxia, dysarthria, spasticity, dystonia, tre-mor or psychosis. While stutter is reportedaccompanying other symptoms of LOTS,
itis not reported as the sole initial manifesta-tion. We report three patients who pre-sented in childhood with developmentalstutter, years before developing other neu-rological manifestations.Patient 1: This 6-year-old girl, born tonon-consanguineous parents of AshkenaziJewish and non-Jewish European back-ground, was the product of an uncompli-cated pregnancy and delivery. She spoke herfirst words at 10 months, sat independently and crawled at 7 months, and walkedindependently at 12.5 months. She devel-oped a marked stutter at 3 years, fine motordelays at 4 years, and subsequent deteriora-tion of gross and fine motor skills, socialregression, cognitive decline and reducedspeech output.Neurological exam at age 6 showed poorattention, difficulty following one-step com-mands, sparse and dysarthric speech, tongueweakness, limb rigidity and toe walking.Diagnostic testing revealed leucocyte HEXA activity of 4% (normal: 63–75%) and serumHEXA activity of 2% (normal: 56–80%),consistent with Tay–Sachs disease.Mutation analysis of the
gene revealedcompound heterozygosity for the
and c.1496G
 A p.R499Hmutations. A paternal uncle had a develop-mental stutter.Patient 2: This 33-year-old right-handedman, born to non-consanguineous parents of non-Jewish European and Russian heritage,was the product of an uncomplicated preg-nancy, labour and delivery. He had one febrileseizure at 9 months. Early developmentalmilestones were normal. At 8 years, hedeveloped an intermittent stutter. At age 14,he noted proximal weakness. Slowly progres-sive weakness and unsteadiness ensued. In hislate teens, he had the first of several acutepsychotic episodes. In his late twenties, hedeveloped progressive dysarthria and dyspha-gia. Diagnostic testing revealed leucocyteHEXA activity of 5% (normal: 63–75%).Mutation analysis revealed c.805G
 A p.G269S and c.1510C
T p.R504Cmutations. An older brother has LOTS.Neurological examination at age 33showed an apathetic, inattentive male withdysarthria, weakness of triceps, finger exten-sors, hip flexors, and left quadriceps, quad-riceps fasciculations, pathologically briskpatellar reflexes and extensor plantarresponses. There was limb dysmetria, ataxia,dysdiadochokinesis, a postural tremor of both upper extremities and a wide-based,spastic gait.Patient 3: This 39-year-old left-handedman born to non-consanguineous parentsof Ashkenazi Jewish and non-JewishGerman background was the product of an uncomplicated pregnancy, labour anddelivery. Early developmental milestones
J Neurol Neurosurg Psychiatry 
January 2009 Vol 80 No 1
on 28 January 2009
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