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The phenotypic spectrum of DYT24 due to ANO3 mutations.

Stamelou M, Charlesworth G, Cordivari C, Schneider SA, Kägi G, Sheerin UM, Rubio-Agusti I, Batla A, Houlden H, Wood NW, Bhatia KP - Mov. Disord. (2014)

Bottom Line: Electrophysiology in two patients with two different mutations showed co-contraction of antagonist muscles, confirming dystonia, and a 6-Hz arm tremor at rest, which increased in amplitude during action.In summary, ANO3 causes a varied phenotype of young-onset or adult-onset craniocervical dystonia with tremor and/or myoclonic jerks.Patients with familial cervical dystonia who also have myoclonus-dystonia as well as patients with prominent tremor and mild dystonia should be tested for ANO3 mutations.

View Article: PubMed Central - PubMed

Affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom; Neurology Clinic, Attiko Hospital, University of Athens, Greece.

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The dystonic activity of patient IV-1 (Family 2) is illustrated. There is intermittent activity in the orbicularis occuli muscles clinically presenting with blepharospasm. There is tremoulous torticollis to the right with continuous activity in the left sternocleidomastoid (LSCM) and the right levator scapulae (RLevSc) muscle. There is dystonic tremor at 6 Hz, superimposed myoclonic jerks at 3 to 4 Hz, and duration no shorter than 250 msec. There was underlying, continuous muscle over-activity in the extensor carpi radialis (ECR) and the flexor carpi radialis (FCR) [Color figure can be viewed in the online issue, which is available at http://wileyonlinelibrary.com.].
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fig02: The dystonic activity of patient IV-1 (Family 2) is illustrated. There is intermittent activity in the orbicularis occuli muscles clinically presenting with blepharospasm. There is tremoulous torticollis to the right with continuous activity in the left sternocleidomastoid (LSCM) and the right levator scapulae (RLevSc) muscle. There is dystonic tremor at 6 Hz, superimposed myoclonic jerks at 3 to 4 Hz, and duration no shorter than 250 msec. There was underlying, continuous muscle over-activity in the extensor carpi radialis (ECR) and the flexor carpi radialis (FCR) [Color figure can be viewed in the online issue, which is available at http://wileyonlinelibrary.com.].

Mentions: His daughter, patient IV-1 (age 39 years), developed laryngeal dysphonia at the age of 5 years and, shortly thereafter, difficulties with her jaw. At age 14 years, she developed tremor of her head and arms. Alcohol had no influence on the tremor. On examination at age 39 years, she had a torticollis to the left and head tremor. She had occasional finger and arm tremor on arms outstretched and occasional superimposed myoclonic jerks. She had laryngeal dysphonia and mild oromandibular dystonia (Video Segment 2A). Electrophysiology on this patient showed intermittent blepharospasm (Fig. 2) and torticollis to the right. There was underlying, continuous muscle over-activity in the levator scapulae, ECR, and FCR. There was tremor of the neck, trunk, and limbs. There was a mild limb co-contraction tremor with the hand supported in semisupination, against gravity and during action, at about 6 Hz. The myoclonic jerks of the neck were mostly torticollic rather than retrocollic. The duration of myoclonus was about 250 msec with a variable frequency of 3 to 4 Hz at rest. There were no interruptions of muscle activity when holding both arms against gravity. Auditory stimulation (tapping stimulation of the mantle area) did not produce any abnormal startle response. EEG back-averaging was not possible because of the dystonic pattern underlying the muscle bursts, which nonetheless were of long duration (250 msec). An investigation of somatosensory evoked potentials did not indicate any giant evoked potentials (P25-N35, 4 μV; N20-P25, 6.6. μV).


The phenotypic spectrum of DYT24 due to ANO3 mutations.

Stamelou M, Charlesworth G, Cordivari C, Schneider SA, Kägi G, Sheerin UM, Rubio-Agusti I, Batla A, Houlden H, Wood NW, Bhatia KP - Mov. Disord. (2014)

The dystonic activity of patient IV-1 (Family 2) is illustrated. There is intermittent activity in the orbicularis occuli muscles clinically presenting with blepharospasm. There is tremoulous torticollis to the right with continuous activity in the left sternocleidomastoid (LSCM) and the right levator scapulae (RLevSc) muscle. There is dystonic tremor at 6 Hz, superimposed myoclonic jerks at 3 to 4 Hz, and duration no shorter than 250 msec. There was underlying, continuous muscle over-activity in the extensor carpi radialis (ECR) and the flexor carpi radialis (FCR) [Color figure can be viewed in the online issue, which is available at http://wileyonlinelibrary.com.].
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4150528&req=5

fig02: The dystonic activity of patient IV-1 (Family 2) is illustrated. There is intermittent activity in the orbicularis occuli muscles clinically presenting with blepharospasm. There is tremoulous torticollis to the right with continuous activity in the left sternocleidomastoid (LSCM) and the right levator scapulae (RLevSc) muscle. There is dystonic tremor at 6 Hz, superimposed myoclonic jerks at 3 to 4 Hz, and duration no shorter than 250 msec. There was underlying, continuous muscle over-activity in the extensor carpi radialis (ECR) and the flexor carpi radialis (FCR) [Color figure can be viewed in the online issue, which is available at http://wileyonlinelibrary.com.].
Mentions: His daughter, patient IV-1 (age 39 years), developed laryngeal dysphonia at the age of 5 years and, shortly thereafter, difficulties with her jaw. At age 14 years, she developed tremor of her head and arms. Alcohol had no influence on the tremor. On examination at age 39 years, she had a torticollis to the left and head tremor. She had occasional finger and arm tremor on arms outstretched and occasional superimposed myoclonic jerks. She had laryngeal dysphonia and mild oromandibular dystonia (Video Segment 2A). Electrophysiology on this patient showed intermittent blepharospasm (Fig. 2) and torticollis to the right. There was underlying, continuous muscle over-activity in the levator scapulae, ECR, and FCR. There was tremor of the neck, trunk, and limbs. There was a mild limb co-contraction tremor with the hand supported in semisupination, against gravity and during action, at about 6 Hz. The myoclonic jerks of the neck were mostly torticollic rather than retrocollic. The duration of myoclonus was about 250 msec with a variable frequency of 3 to 4 Hz at rest. There were no interruptions of muscle activity when holding both arms against gravity. Auditory stimulation (tapping stimulation of the mantle area) did not produce any abnormal startle response. EEG back-averaging was not possible because of the dystonic pattern underlying the muscle bursts, which nonetheless were of long duration (250 msec). An investigation of somatosensory evoked potentials did not indicate any giant evoked potentials (P25-N35, 4 μV; N20-P25, 6.6. μV).

Bottom Line: Electrophysiology in two patients with two different mutations showed co-contraction of antagonist muscles, confirming dystonia, and a 6-Hz arm tremor at rest, which increased in amplitude during action.In summary, ANO3 causes a varied phenotype of young-onset or adult-onset craniocervical dystonia with tremor and/or myoclonic jerks.Patients with familial cervical dystonia who also have myoclonus-dystonia as well as patients with prominent tremor and mild dystonia should be tested for ANO3 mutations.

View Article: PubMed Central - PubMed

Affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom; Neurology Clinic, Attiko Hospital, University of Athens, Greece.

Show MeSH
Related in: MedlinePlus