Chediak-Higashi syndrome with cerebellar cortical atrophy detected by MRI

ABSTRACT:A review concerning the characteristics of the cerebellar serotoninergic system is presented. In rat, cat and oppossum, the perikarya of origin are located in the brain stem raphe nuclei and in other brainstem structures. The projections to the cerebellar layers and deep nuclei include synaptic connections, but also non synaptic terminals, espedaily in a diffuse cortical plexus. Serotoninergic receptors have been described: 5-HT1B in the molecular layer and 5-HT2 in the inferior olive. Serotonin exerts neurophysiological effects on several target cells, directly or indirectly, presynaptically or postsynaptically. A modulatory effect on Purkinje cells is well documented. In thiamine deprived animals, a specific serotoninergic cerebellar syndrome includes a selective degeneration of the serotoninergic cerebellar system, an increase of the 5-HIAA cerebellar values and an exaggerated serotoninergic turnover. In human here-doataxias (Friedreich’s ataxia and cerebellar cortical atrophy), serotoninergic disturbances have been observed in the CSF, including low 5-HIAA values and an increased serotoninergic turnover. Therapeutic results have been obtained with L-5-HTP, a precursor of serotonin, in several conditions presenting cerebellar ataxia. L-5-HTP resistance of olivo-pontocerebellar atrophies may be explained by the destruction of serotonin-sensitive target cells, especially Purkinje cells.

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Autosomal recessive late onset multisystem disorder with cerebellar cortical atrophy at necropsy: report of a family.

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp.47.8.853 ◽

1984 ◽

Vol 47 (8) ◽

pp. 853-856 ◽

Cited By ~ 3

Author(s):

A E Harding ◽

J V Diengdoh ◽

A J Lees

Keyword(s):

Autosomal Recessive ◽

Late Onset ◽

Cortical Atrophy ◽

Multisystem Disorder ◽

Cerebellar Cortical Atrophy

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Short-Term Effect of Intensive Speech Therapy on Dysarthria in Patients With Sporadic Spinocerebellar Degeneration

Journal of Speech Language and Hearing Research ◽

10.1044/2020_jslhr-20-00259 ◽

2021 ◽

pp. 1-9

Author(s):

Yuma Sonoda ◽

Nao Yoshida ◽

Kazunori Kawami ◽

Akihiro Kitamura ◽

Nobuhiro Ogawa ◽

...

Keyword(s):

Speech Therapy ◽

Depression Scale ◽

Cortical Atrophy ◽

Word Fluency ◽

Motor Speech ◽

Maximum Phonation Time ◽

Related Quality ◽

Cerebellar Type ◽

Cerebellar Cortical Atrophy

Purpose The aim of this study was to investigate a structured approach for effective speech therapy (ST) for dysarthria and speech-related quality of life in patients with sporadic spinocerebellar degeneration (SCD), including cerebellar-type multiple-system atrophy and cerebellar cortical atrophy. Method Twenty-two patients with SCD (cerebellar-type multiple system atrophy, 15 patients; cerebellar cortical atrophy, seven patients) who underwent intensive ST were examined. Dysarthria was evaluated using the Scale for Assessment and Rating of Ataxia Speech Dysfunction, Assessment of Motor Speech for Dysarthria Articulation, oral diadochokinesis (OD), and Voice Handicap Index-10 (VHI-10). Respiratory muscle strength (inspiratory and expiratory pressure) and respiratory–phonatory coordination (maximum phonation time) were measured. Cognitive function was evaluated using the Montréal Cognitive Assessment and the word fluency test. Mood was evaluated using the Hospital Anxiety and Depression Scale. The relationships between dysarthria scales (particularly, VHI-10) and clinical data were analyzed using stepwise regression. The differences in outcomes after intensive ST were analyzed using the Wilcoxon signed-rank test. The alpha level ( p ) for statistical significance was set at .0125 by Bonferroni correction. Results For both pre- and post-ST, the patient's OD ( p = .002) and maximum phonation time ( p = .002) significantly improved, except for Speech Dysfunction scores of the Scale for Assessment and Rating of Ataxia ( p = .705) and the VHI-10 ( p = .018). The Assessment of Motor Speech for Dysarthria Articulation, OD, and inspiratory pressure were identified as independent variables of VHI-10 (adjusted R 2 = .820) for speech-related quality of life; no correlations among the Montréal Cognitive Assessment, word fluency test, and Hospital Anxiety and Depression Scale scores were observed. Conclusion OD and VHI-10 showed improvements due to changes in speech function and respiratory–phonatory coordination, justifying intensive ST treatment for dysarthria in patients with SCD.

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Speech and Oral Motor Learning in Individuals With Cerebellar Atrophy

Journal of Speech Language and Hearing Research ◽

10.1044/jslhr.4205.1157 ◽

1999 ◽

Vol 42 (5) ◽

pp. 1157-1175 ◽

Cited By ~ 19

Author(s):

Geralyn M. Schulz ◽

William O. Dingwall ◽

Christy L. Ludlow

Keyword(s):

Motor Learning ◽

Peak Velocity ◽

Cerebellar Atrophy ◽

Cortical Atrophy ◽

Movement Speed ◽

The Novel ◽

Movement Variability ◽

Oral Motor ◽

And Control ◽

Cerebellar Cortical Atrophy

The purpose of this study was to determine whether cerebellar pathology interferes with motor learning for either speech or novel tasks. Practice effects were contrasted between persons with cerebellar cortical atrophy (CCA) and control participants on previously learned real speech, nonsense speech, and novel nonspeech oral-movement tasks. Studies of limb motor learning suggested that control participants would evidence reduced variability, increased speed of movement, and reduced movement amplitude with practice as compared with the CCA group. No significant differences were found between the real- and nonsense-speech tasks. For both speech tasks, although neither group reduced their movement variability with practice, both groups significantly reduced jaw closing displacement and velocity with practice. For the novel nonspeech oral-movement task, no change with practice was observed in either group in terms of variability, amplitude, or peak velocity. No effects of cerebellar pathology were seen in either the speech- or oral-movement tasks. These results demonstrated that with practice of speech tasks, a previously learned motor skill, movement speed and displacement decreased in both groups. Therefore, the effects of practice differed between previously learned speech tasks and the novel oral-movement task regardless of cerebellar pathology.

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