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Hereditary Coproporphyria Associated with the Q306X Mutation in the Coproporphyrin Oxidase Gene Presenting with Acute Ataxia Cover

Hereditary Coproporphyria Associated with the Q306X Mutation in the Coproporphyrin Oxidase Gene Presenting with Acute Ataxia

Tremor and Other Hyperkinetic Movements
Volume 3 (2013): Issue 0
By: Félix Javier Jiménez-Jiménez,  José A. G. Agúndez,  Carmen Martínez,  Francisco Navacerrada,  José Francisco Plaza-Nieto,  Belén Pilo-de-la-Fuente,  Hortensia Alonso-Navarro and  Elena García-Martín  
Open Access
|Jul 2013

Figures & Tables

Table 1

Scores of the International Cooperative Ataxia Rating Scale (ICARS) before Treatment with Heme Arginate and 2 Weeks After Treatment

ICARS SubscaleICARS ItemPre-treatmentScore (Day 0)Post-treatmentScore (Day 15)
Posture and gait disturbancesWalking capacities7/85/8
Gait speed3/42/4
Standing capacities, eyes open4/63/6
Spread of feet in natural position without support, eyes open3/42/4
Body sway with feet together, eyes open3/42/4
Body sway with feet together, eyes closed3/42/4
Quality of sitting position2/41/4
Posture and gait score (static score)25/3417/34
Kinetic functionKnee-tibia test6/82/8
Action tremor in the heel-to-knee test2/82/8
Finger-to-nose test: decomposition and dysmetria4/82/8
Finger-to-nose test: intention tremor of the finger2/82/8
Finger–finger test: action tremor and/or instability4/82/8
Pronation supination altering movements4/82/8
Drawing of the Archimedes spiral on a pre-drawn pattern2/42/4
Kinetic score (limb coordination)24/5214/52
Speech disordersDysarthria: fluency of speech3/41/4
Dysarthria: clarity of speech2/41/4
Dysarthria score5/82/8
Oculomotor disordersGaze-evoked nystagmus0/30/3
Abnormalities of the ocular pursuit1/21/2
Dysmetria of the saccade1/11/1
Oculomotor movement score2/62/6
Total ataxia score56/10035/100
Table 2

Primers Used to Amplify the Seven Exons of the CPOX Gene

FragmentForwardReverse
Exon 1AGCTCGCCGGCTCAATACTCTGTGGGTACCCCCTACCTAC
Exon 2GATTTGGGAAACGGGAAAATGGGCAAAATAAGGTTTGCAG
Exon 3GCCGCACGTTGACAAATACTTTGCCTTTACATTGCCTCCT
Exon 4TTCTGCCTAGGCCTTACTGGTGTAATTTTGGGGTCATGAAA
Exon 5ACCTGAAAGGCTCACTAAGAGCTGCTCCAC
Exon 6GCTGTAGGCTGGTGTCCTCTTTGGGAATTGGGAGTGTAGG
Exon 7TGTGGCACAAATGAAAACTTTATGCTTTTGTTTTGGACATGC
DOI: https://doi.org/10.5334/tohm.145 | Journal eISSN: 2160-8288
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Language: English
Submitted on: Dec 28, 2012
Accepted on: Feb 26, 2013
Published on: Jul 25, 2013
Published by: Columbia University Libraries/Information Services
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
Ataxia,
porphyria,
hereditary coproporphyria,
CPOX gene,
mutations

© 2013 Félix Javier Jiménez-Jiménez, José A. G. Agúndez, Carmen Martínez, Francisco Navacerrada, José Francisco Plaza-Nieto, Belén Pilo-de-la-Fuente, Hortensia Alonso-Navarro, Elena García-Martín, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons License.

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