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
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
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
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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