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Initial Cerebellar Ataxia in Hereditary Adult-Onset Primary Lateral Sclerosis
Cerebellar ataxia preceding the apparition of primary lateral sclerosis (PLS) is reported herein. Three individuals from 2 independent kindreds experienced ataxia before developing clinical signs of PLS. Disease onset was during the sixth decade or later, and an insidious onset, with progression exc...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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S. Karger AG
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299400/ https://www.ncbi.nlm.nih.gov/pubmed/34326749 http://dx.doi.org/10.1159/000515157 |
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author | Gazulla, José Izquierdo-Alvarez, Silvia Ruiz-Fernández, Emilio Berciano, José |
author_facet | Gazulla, José Izquierdo-Alvarez, Silvia Ruiz-Fernández, Emilio Berciano, José |
author_sort | Gazulla, José |
collection | PubMed |
description | Cerebellar ataxia preceding the apparition of primary lateral sclerosis (PLS) is reported herein. Three individuals from 2 independent kindreds experienced ataxia before developing clinical signs of PLS. Disease onset was during the sixth decade or later, and an insidious onset, with progression exceeding 11 years, was observed. Pathochrony was homogenous, consisting of initial gait instability, followed by hand dysmetria 2 years later. During a 5-year follow-up, cerebellar ataxia remained the sole clinical manifestation, preceding the appearance of muscle stiffness, which progressed to a paraparesis, and then to a purely spastic quadriparesis, over 4 years; pseudobulbar dysarthria and dysphagia appeared later. At this disease stage, limb spasticity, hyperactive jaw and limb stretch reflexes, extensor plantar responses, and a spastic dysarthria were found on examination; limb dysmetria and an ataxo-spastic gait were also found. No muscle atrophy or fasciculation was observed. Among ancillary tests, electromyographic studies performed 6 years after disease onset revealed normal motor unit action potentials and absence of spontaneous activity, in 2 individuals. MRI revealed normal cerebellum and brainstem in 2 cases. Inheritance was dominant in both kindreds, and extensive genetic testing was negative. It is concluded that cerebellar ataxia preceded the appearance of a purely spastic spinobulbar syndrome (which fulfilled the clinical diagnostic criteria for PLS) during a 5-year period in 3 patients with a hereditary, adult-onset form of PLS; subsequent disease progression was equivalent to that of sporadic PLS. Further studies are needed to fully delineate the clinical and genetic spectra of adult-onset PLS. |
format | Online Article Text |
id | pubmed-8299400 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | S. Karger AG |
record_format | MEDLINE/PubMed |
spelling | pubmed-82994002021-07-28 Initial Cerebellar Ataxia in Hereditary Adult-Onset Primary Lateral Sclerosis Gazulla, José Izquierdo-Alvarez, Silvia Ruiz-Fernández, Emilio Berciano, José Case Rep Neurol Case Series – General Neurology Cerebellar ataxia preceding the apparition of primary lateral sclerosis (PLS) is reported herein. Three individuals from 2 independent kindreds experienced ataxia before developing clinical signs of PLS. Disease onset was during the sixth decade or later, and an insidious onset, with progression exceeding 11 years, was observed. Pathochrony was homogenous, consisting of initial gait instability, followed by hand dysmetria 2 years later. During a 5-year follow-up, cerebellar ataxia remained the sole clinical manifestation, preceding the appearance of muscle stiffness, which progressed to a paraparesis, and then to a purely spastic quadriparesis, over 4 years; pseudobulbar dysarthria and dysphagia appeared later. At this disease stage, limb spasticity, hyperactive jaw and limb stretch reflexes, extensor plantar responses, and a spastic dysarthria were found on examination; limb dysmetria and an ataxo-spastic gait were also found. No muscle atrophy or fasciculation was observed. Among ancillary tests, electromyographic studies performed 6 years after disease onset revealed normal motor unit action potentials and absence of spontaneous activity, in 2 individuals. MRI revealed normal cerebellum and brainstem in 2 cases. Inheritance was dominant in both kindreds, and extensive genetic testing was negative. It is concluded that cerebellar ataxia preceded the appearance of a purely spastic spinobulbar syndrome (which fulfilled the clinical diagnostic criteria for PLS) during a 5-year period in 3 patients with a hereditary, adult-onset form of PLS; subsequent disease progression was equivalent to that of sporadic PLS. Further studies are needed to fully delineate the clinical and genetic spectra of adult-onset PLS. S. Karger AG 2021-06-21 /pmc/articles/PMC8299400/ /pubmed/34326749 http://dx.doi.org/10.1159/000515157 Text en Copyright © 2021 by S. Karger AG, Basel https://creativecommons.org/licenses/by-nc/4.0/This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission. |
spellingShingle | Case Series – General Neurology Gazulla, José Izquierdo-Alvarez, Silvia Ruiz-Fernández, Emilio Berciano, José Initial Cerebellar Ataxia in Hereditary Adult-Onset Primary Lateral Sclerosis |
title | Initial Cerebellar Ataxia in Hereditary Adult-Onset Primary Lateral Sclerosis |
title_full | Initial Cerebellar Ataxia in Hereditary Adult-Onset Primary Lateral Sclerosis |
title_fullStr | Initial Cerebellar Ataxia in Hereditary Adult-Onset Primary Lateral Sclerosis |
title_full_unstemmed | Initial Cerebellar Ataxia in Hereditary Adult-Onset Primary Lateral Sclerosis |
title_short | Initial Cerebellar Ataxia in Hereditary Adult-Onset Primary Lateral Sclerosis |
title_sort | initial cerebellar ataxia in hereditary adult-onset primary lateral sclerosis |
topic | Case Series – General Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299400/ https://www.ncbi.nlm.nih.gov/pubmed/34326749 http://dx.doi.org/10.1159/000515157 |
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