A Middle-aged Man With Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
Sign Up to like & getrecommendations! Published in 2017 at "JAMA Neurology"
DOI: 10.1001/jamaneurol.2017.0055
Abstract: A 50-year old man presented for evaluation of progressive gait ataxia with a superimposed spastic paraparesis. During his clinic visit, he was also observed to have slow and limited eye movements. In this article, we… read more here.
Keywords: spastic paraparesis; ataxia; man; middle aged ... See more keywords
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects
Sign Up to like & getrecommendations! Published in 2018 at "Annals of Neurology"
DOI: 10.1002/ana.25220
Abstract: To identify novel causes of recessive ataxias, including spinocerebellar ataxia with saccadic intrusions, spastic ataxias, and spastic paraplegia. read more here.
Keywords: mutations vps13d; new recessive; ataxia; lead new ... See more keywords
Cerebellar Bottom of Fissure Hyperintensities in MT‐ATP6‐Associated Ataxia
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Neurology"
DOI: 10.1002/ana.26311
Abstract: MT-ATP6-associated disease is caused by mutations in the mitochondrial gene MT-ATP6, encoding a subunit of the ATP synthase complex. Clinically, MT-ATP6 mutations were first associated with a syndrome combining neuropathy, ataxia, and retinitis pigmentosa (NARP… read more here.
Keywords: atp6 associated; age; age years; ataxia ... See more keywords
Heterozygous PNPT1 variants cause spinocerebellar ataxia type 25.
Sign Up to like & getrecommendations! Published in 2022 at "Annals of neurology"
DOI: 10.1002/ana.26366
Abstract: OBJECTIVE Dominant spinocerebellar ataxias (SCA) are characterized by genetic heterogeneity. Some mapped and named loci remain without a causal gene identified. Here we applied next generation sequencing (NGS) to uncover the genetic etiology of the… read more here.
Keywords: pnpt1 variants; ataxia; variants cause; pnpt1 ... See more keywords
Responsiveness of the SARA and natural history in 884 recessive and early onset ataxia patients.
Sign Up to like & getrecommendations! Published in 2023 at "Annals of neurology"
DOI: 10.1002/ana.26712
Abstract: OBJECTIVE The Scale for the Assessment and Rating of Ataxia (SARA) is the most widely applied clinical outcome assessment (COA) for genetic ataxias, but presents metrological and regulatory challenges. To facilitate trial planning, we characterize… read more here.
Keywords: natural history; sara; early onset; recessive early ... See more keywords
Dysfunction of cerebellar microglia in Ataxia‐telangiectasia
Sign Up to like & getrecommendations! Published in 2021 at "Glia"
DOI: 10.1002/glia.24122
Abstract: Ataxia‐telangiectasia (A‐T) is a multisystem autosomal recessive disease caused by mutations in the ATM gene and characterized by cerebellar atrophy, progressive ataxia, immunodeficiency, male and female sterility, radiosensitivity, cancer predisposition, growth retardation, insulin‐resistant diabetes, and… read more here.
Keywords: ataxia telangiectasia; cerebellar microglia; dysfunction; ataxia ... See more keywords
Structural signature of classical versus late‐onset friedreich's ataxia by Multimodality brain MRI
Sign Up to like & getrecommendations! Published in 2017 at "Human Brain Mapping"
DOI: 10.1002/hbm.23655
Abstract: Friedreich's ataxia (FRDA) is the most common autosomal‐recessive ataxia worldwide. It is characterized by early onset, sensory abnormalities, and slowly progressive ataxia. However, some individuals manifest the disease after the age of 25 years and… read more here.
Keywords: onset; late onset; friedreich ataxia; ataxia ... See more keywords
Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression
Sign Up to like & getrecommendations! Published in 2017 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12522
Abstract: Spinocerebellar ataxias (SCAs) are dominantly inherited, progressive ataxia disorders. Disease progression could be preceded by weight loss. read more here.
Keywords: body mass; index decline; mass index; ataxia ... See more keywords
SPG7: The Great Imitator of MSA‐C Within the ILOCAs
Sign Up to like & getrecommendations! Published in 2019 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12711
Abstract: Idiopathic late-onset cerebellar ataxia (ILOCA) was introduced by A. Harding in 1981. The term described patients, starting around the age of 50, with slowly progressive cerebellar ataxia (CA) of unknown cause, sometimes associated with other… read more here.
Keywords: msa within; great imitator; ataxia; imitator msa ... See more keywords
Ataxia and Action Myoclonus Related to Novel Mutations in ATP13A2 Gene
Sign Up to like & getrecommendations! Published in 2021 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13260
Abstract: Mutations in the ATP13A2 gene have been causally associated with Kufor-Rakeb syndrome and later with neuronal ceroid lipofuscinosis and a complicated form of hereditary spastic paraplegia (SPG78). The ATP13A2 gene encodes a lysosomal 5Ptype ATPase… read more here.
Keywords: atp13a2 gene; ataxia; action myoclonus; myoclonus ... See more keywords
Interictal Headache, Pseudodystonia, and Persistent Ataxia in Episodic Ataxia Type 1 Due to a Novel KCNA1 Gene Mutation
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13381
Abstract: We report a case to broaden our understanding of the unusual phenotypical spectrum of rare genetic ataxia. A 33-year old woman presented with intermittent episodes of periorbital twitching for the last 30 years and episodic… read more here.
Keywords: kcna1 gene; dizzy spells; ataxia; mutation ... See more keywords