News

March
15th
More than at the Neuromuscular Synapse: Actions of Botulinum Neurotoxin A in the Central Nervous System.
Mazzocchio R, Caleo M. - March 15, 2014

Botulinum neurotoxin type A (BoNT/A) is a metalloprotease that produces a sustained yet transitory blockade of transmitter release from peripheral nerve terminals. Local delivery of this neurotoxin is successfully employed in clinical practice to reduce muscle hyperactivity such as in spasticity and dystonia, and to relieve pain with long-lasting therapeutic effects. However, not all BoNT/A effects can be explained by an action at peripheral nerve terminals.
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March
15th
Pathogenic variants in TUBB4A are not found in primary dystonia.
Vemula SR, Xiao J, Bastian RW, Momčilović D, Blitzer A, Ledoux MS. - March 15, 2014

OBJECTIVE: To determine the contribution of TUBB4A, recently associated with DYT4 dystonia in a pedigree with "whispering dysphonia" from Norfolk, United Kingdom, to the etiopathogenesis of primary dystonia. METHODS: High-resolution melting and Sanger sequencing were used to inspect the entire coding region of TUBB4A in 575 subjects with primary laryngeal, segmental, or generalized dystonia. RESULTS: No pathogenic variants, including the exon 1 variant (c.4C>G) identified in the DYT4 whispering dysphonia kindred, were found in this study.
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March
15th
ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia.
Sheerin UM1, Schneider SA, Carr L, Deuschl G, Hopfner F, Stamelou M, Wood NW, Bhatia KP. - March 15, 2014

OBJECTIVE: To determine the genetic etiology in 2 consanguineous families who presented a novel phenotype of autosomal recessive juvenile amyotrophic lateral sclerosis associated with generalized dystonia. METHODS: A combination of homozygosity mapping and whole-exome sequencing in the first family and Sanger sequencing of candidate genes in the second family were used. RESULTS: Both families were found to have homozygous loss-of-function mutations in the amyotrophic lateral sclerosis 2 (juvenile) (ALS2) gene.
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March
15th
The BiP molecular chaperone plays multiple roles during the biogenesis of TorsinA, a AAA+ ATPase associated with the neurological disease Early-Onset Torsion Dystonia.
Zacchi LF1, Wu HC, Bell SL, Millen L, Paton AW, Paton JC, Thomas PJ, Zolkiewski M, Brodsky JL. - March 15, 2014

Early Onset Torsion Dystonia (EOTD) is a neurological disorder characterized by involuntary and sustained muscle contractions that can lead to paralysis and abnormal posture. EOTD is associated with the deletion of a glutamate (E) in TorsinA, an ER resident AAA+ ATPase. To date, the effect of E on TorsinA and the reason that this mutation results in EOTD are unclear. Moreover, there are no specific therapeutic options to treat EOTD.
- Read more about The BiP molecular chaperone plays multiple roles during the biogenesis of TorsinA, a AAA+ ATPase associated with the neurological disease Early-Onset Torsion Dystonia.
March
15th
Asymmetric pallidal neuronal activity in patients with cervical dystonia.
Moll CK, Galindo-Leon E, Sharott A, Gulberti A, Buhmann C, Koeppen JA, Biermann M, Bäumer T, Zittel S, Westphal M, et al. - March 15, 2014

The origin of asymmetric clinical manifestation of symptoms in patients suffering from cervical dystonia (CD) is hitherto poorly understood. Dysregulated neuronal activity in the basal ganglia has been suggested to have a role in the pathophysiology of CD. Here, we re-assessed the question to what extent relative changes occur in the direct vs. indirect basal ganglia pathway in CD, whether these circuit changes are lateralized, and how these alterations relate to CD symptoms.
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News

More than at the Neuromuscular Synapse: Actions of Botulinum Neurotoxin A in the Central Nervous System.

Pathogenic variants in TUBB4A are not found in primary dystonia.

ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia.

The BiP molecular chaperone plays multiple roles during the biogenesis of TorsinA, a AAA+ ATPase associated with the neurological disease Early-Onset Torsion Dystonia.

Asymmetric pallidal neuronal activity in patients with cervical dystonia.

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