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anarthria/sclerosis

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[Paroxysmic anarthria in multiple sclerosis].

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BACKGROUND The paroxystic clinical features of multiple sclerosis (MS) include trigeminal neuralgia, itch, transient diplopia, Lhermitte's sign, akinesia, dystonia, Uhthoff's phenomenon and others which are very characteristic, such as paroxystic ataxia and dysarthria. METHODS We present the case of

A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.

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The diagnosis of childhood neurological disorders remains challenging given the overlapping clinical presentation across subgroups and heterogeneous presentation within subgroups. To determine the underlying genetic cause of a severe neurological disorder in a large consanguineous Pakistani family

[Progressive anarthria: an individual entity].

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BACKGROUND First described 15 years ago, primary progressive anarthria is a focal cortical atrophy defined as a rare progressive impairment of speech associated with orofacial apraxia and leading to mutism with a frontal lobe syndrome. The aim of this study was to analyze clinical and

Co-occurrence of progressive anarthria with an S393L TARDBP mutation and ALS within a family.

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Progressive anarthria is usually classified as a tau pathology. We report an 87-year-old female with a family history of ALS and Parkinsonism, presenting with progressive anarthria. Molecular genetics analyses showed a heterozygous mutation S393L on exon 6 of the TARDBP gene. It has been previously
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