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Case Reports
. 2012 Sep;107(1-2):229-33.
doi: 10.1016/j.ymgme.2012.05.020. Epub 2012 Jun 1.

Neurotransmitter abnormalities and response to supplementation in SPG11

Adeline Vanderver  1 , Davide Tonduti, Sarah Auerbach, Johanna L Schmidt, Sumit Parikh, Gordon C Gowans, Kelly E Jackson, Pamela L Brock, Marc Patterson, Michelle Nehrebecky, Rena Godfrey, Wadih M Zein, William Gahl, Camilo Toro
Affiliations
Case Reports

Neurotransmitter abnormalities and response to supplementation in SPG11

Adeline Vanderver et al. Mol Genet Metab. 2012 Sep.

Abstract

Objective: To report the detection of secondary neurotransmitter abnormalities in a group of SPG11 patients and describe treatment with l-dopa/carbidopa and sapropterin.

Design: Case reports.

Setting: National Institutes of Health in the Undiagnosed Disease Program; Children's National Medical Center in the Myelin Disorders Bioregistry Program.

Patients: Four SPG11 patients with a clinical picture of progressive spastic paraparesis complicated by extrapyramidal symptoms and maculopathy.

Interventions: L-Dopa/carbidopa and sapropterin.

Results: 3/4 patients presented secondary neurotransmitter abnormalities; 4/4 partially responded to L-dopa as well as sapropterin.

Conclusions: In the SPG11 patient with extrapyramidal symptoms, a trial of L-dopa/carbidopa and sapropterin and/or evaluation of cerebrospinal fluid neurotransmitters should be considered.

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Figures

Figure 1
Figure 1
Top portion: Magnetic resonance imaging: MR Flair-weighted axial scan. All patients showed the “ears of lynx” sign consisting of signal changes of periventricular white matter in the frontal region centered in the area of the forceps minor of the corpus callosum. Patients also demonstrated white matter atrophy. Bottom portion: Magnetic resonance imaging: MR T1-weighted sagittal scan. All patients had a thin corpus callosum more pronounced in the mid and anterior portions with relative sparing of the splenium. This abnormality results in a “beaked” appearance of the anterior portion of the corpus callosum considered characteristic of SPG11.
Figure 2
Figure 2
Retinal images of the patients 1, 2 and 3 (Figure 2a/b/c) shows the retinal changes in the right eye of the patient as noted on color fundus photos and on fundus auto-fluorescence imaging. The finding of retinal abnormalities is consistent with Kjellin syndrome, and was previously felt to distinguish the clinically similar SPG15 (caused by mutations in KIAA0321 encoding spastizin) from SPG11, but recently described in SPG11 patients,, . Kejellin syndrome is additionally characterized by cerebellar signs, and amyotrophy, also seen clinically in some of our patients.
See this image and copyright information in PMC

References

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Publication types

Supplementary concepts