News

September
15th
Striatal parvalbuminergic neurons are lost in Huntington's disease: implications for dystonia.
Reiner A, Shelby E, Wang H, Demarch Z, Deng Y, Guley NH, Hogg V, Roxburgh R, Tippett LJ, Waldvogel HJ, Faull RL. - September 15, 2013

Although dystonia represents a major source of motor disability in Huntington's disease (HD), its pathophysiology remains unknown. Because recent animal studies indicate that loss of parvalbuminergic (PARV+) striatal interneurons can cause dystonia, we investigated if loss of PARV+ striatal interneurons occurs during human HD progression, and thus might contribute to dystonia in HD.
- Read more about Striatal parvalbuminergic neurons are lost in Huntington's disease: implications for dystonia.
September
15th
Striatal parvalbuminergic neurons are lost in Huntington's disease: implications for dystonia.
Reiner A, Shelby E, Wang H, Demarch Z, Deng Y, Guley NH, Hogg V, Roxburgh R, Tippett LJ, Waldvogel HJ, Faull RL. - September 15, 2013

Although dystonia represents a major source of motor disability in Huntington's disease (HD), its pathophysiology remains unknown. Because recent animal studies indicate that loss of parvalbuminergic (PARV+) striatal interneurons can cause dystonia, we investigated if loss of PARV+ striatal interneurons occurs during human HD progression, and thus might contribute to dystonia in HD.
- Read more about Striatal parvalbuminergic neurons are lost in Huntington's disease: implications for dystonia.
September
1st
Pre-Synaptic Release Deficits in a DYT1 Dystonia Mouse Model.
Yokoi F, Cheetham CC, Campbell SL, Sweatt JD, Li Y. - September 1, 2013

DYT1 early-onset generalized torsion dystonia (DYT1 dystonia) is an inherited movement disorder caused by mutations in one allele of DYT1 (TOR1A), coding for torsinA. The most common mutation is a trinucleotide deletion (ΔGAG), which causes a deletion of a glutamic acid residue (ΔE) in the C-terminal region of torsinA. Although recent studies using cultured cells suggest that torsinA contributes to protein processing in the secretory pathway, endocytosis, and the stability of synaptic proteins, the nature of how this mutation affects synaptic transmission remains unclear.
- Read more about Pre-Synaptic Release Deficits in a DYT1 Dystonia Mouse Model.
September
1st
The combined treatment with orbital and pretarsal botulinum toxin injections in the management of poorly responsive blepharospasm.
Esposito M, Fasano A, Crisci C, Dubbioso R, Iodice R, Santoro L. - September 1, 2013

Blepharospasm (BS) is a focal dystonia involving involuntary contractions of muscles around the eyes. Botulinum toxin (BoNT) is the most effective treatment for BS and the technique of injection changes depending on the clinical picture. Usually typical BS benefits from the injection in the orbital part of the orbicularis oculi (OOc) muscle (orbital injection), while BoNT injection in the pretarsal part of OOc muscle is helpful especially for the atypical BS (opening eyelid apraxia).
- Read more about The combined treatment with orbital and pretarsal botulinum toxin injections in the management of poorly responsive blepharospasm.
September
1st
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.
Charlesworth G, Mohire MD, Schneider SA, Stamelou M, Wood NW, Bhatia KP. - September 1, 2013

Objective: To identify the cause of cervical dopa-responsive dystonia (DRD) in a Muslim Indian family inherited in an apparently autosomal recessive fashion, as previously described in this journal.
- Read more about Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.

News

Striatal parvalbuminergic neurons are lost in Huntington's disease: implications for dystonia.

Striatal parvalbuminergic neurons are lost in Huntington's disease: implications for dystonia.

Pre-Synaptic Release Deficits in a DYT1 Dystonia Mouse Model.

The combined treatment with orbital and pretarsal botulinum toxin injections in the management of poorly responsive blepharospasm.

Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.

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