Sensorimotor Function and Axonal Integrity in Adrenomyeloneuropathy

Background Static posture imbalance and gait dysfunction are common in individuals with multiple sclerosis (MS). Although the impact of strength and static balance on walking has been examined, little is known about the impact of dynamic standing balance on walking in MS. Objective To determine the impact of dynamic balance, static balance, sensation, and strength measures to walking in individuals with MS. Methods 52 individuals with MS (27 females; 26 relapsing-remitting; mean age 45.6±10.3 years; median EDSS 3.5 (range 0-7) participated in testing for dynamic and static posturography (Kistler 9281 force plate), hip flexion, hip extension, and ankle dorsiflexion strength (Microfet2 hand-held dynamometer), sensation (Vibratron II) and walk velocity (Optotrak Motion Analysis System). Mann-Whitney tests, Spearman correlation coefficients, and forward stepwise multiple regression were used to assess statistical significance. Results All measures were significantly abnormal in MS subjects when compared to age and sex-matched norms (p<0.05 for all). Static balance (eyes open, feet together [EOFT]), anterior- posterior (AP) dynamic sway, and hip extension strength were strongly correlated with fast walking velocity (AP sway r=0.68; hip extension strength r=0.73; EOFT r=-0.40). Together, AP dynamic sway (ρr=0.71, p<0.001), hip extension strength (ρr=0.54, p<0.001), and EOFT static balance (ρr=-0.41, p=0.01) explained more than 70% of the variance in fast walking velocity (p<0.001). Conclusions These data suggest that AP dynamic sway impacts walking performance in MS. A combined evaluation of dynamic balance, static balance and strength may lead to a better understanding of walking mechanisms as well as the development of strategies to improve walking.

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“…Two 20-second trials were recorded for each dynamic condition following the methods from our laboratory. 27-28 …”

Section: Methodsmentioning

confidence: 99%

The Impact of Dynamic Balance Measures on Walking Performance in Multiple Sclerosis

Fritz

Marasigan

Calabresi

et al. 2014

Neurorehabil Neural Repair

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“…In "pure" AMN abnormalities are present mainly in the spinal cord, peripheral nerves, and the corticospinal tract in the internal capsule. The degree of severity of pure AMN is assessed by the Kurtzke expanded disability scale [12] and more precisely by quantitative sensorimotor tests [13]. A scale specific for adult X-ALD has been devised [14].…”

Section: Introductionmentioning

confidence: 99%

Auditory brainstem response findings and peripheral auditory sensitivity in adrenoleukodystrophy

Pillion

Kharkar

Mahmood

et al. 2006

Journal of the Neurological Sciences

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“…The two other brothers had similarly mild neuroelectrophysiological patterns. Theoretically, accumulation of VLCFAs would contribute to a deleterious effect on the spinal cord and peripheral nerves showing signs of axonal degeneration and a "dying back" phenomenon with secondary demyelination [19]. Therefore, the neuropathic features in our patients were similar to metabolic neuropathies showing a mixed pattern with axonal loss and multifocal demyelination.…”

Section: Discussionmentioning

confidence: 63%

Novel <b><i>ABCD1</i></b> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum

et al. 2018

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Background: Adult adrenomyeloneuropathy (AMN) is caused by mutations in the ABCD1 gene. Some pure AMN patients develop cerebral demyelination late in life. However, hypoplasia and agenesis of the corpus callosum (CC) has never been reported in AMN patients. Objective: To describe a new clinical variant of AMN that is possibly caused by a novel ABCD1 gene mutation. Methods: A total of 10 members in an X-linked inherited family were examined. The age at onset, progression of disability, and clinical manifestations were collected. Blood tests of the index case were conducted in an academic hospital. Cerebral and spinal MRI was performed in 4 affected members using a Siemens 3.0-T or Hitachi 1.0-T MR scanner. Whole-exome sequencing was conducted in the index case, which was subsequently validated by Sanger sequencing in the family. Results: The patients displayed typical degenerative spastic paraparesis and peripheral sensorimotor neuropathy with some intrafamilial variations. In addition to neurological deficits, all male patients displayed alopecia since adolescence. Furthermore, an increase in plasma long-chain fatty acids was observed. Based on these presentations, adult AMN was diagnosed for the patients. Intriguingly, cerebral MRI showed multiple types of hypoplasia and agenesis of the CC including anterior remnant CC agenesis, truncated corpus and splenium, anterior remnant CC agenesis along with thin corpus and splenium. Whole-exome sequencing revealed a nonsense mutation (c.231G>A) which results in a truncated protein product (p.W77X) that might be nonfunctional. No other mutations associated with alopecia or hypoplasia and agenesis of the CC were identified in the exome-sequencing database. Conclusion: In addition to the typical symptoms such as spastic myelopathy, cognitive impairment, mixed neuropathy, and alopecia, AMN patients can also display hypoplasia and agenesis of the CC, which was not described in the other AMN patients reported before.

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Sensorimotor Function and Axonal Integrity in Adrenomyeloneuropathy

Abstract: Background: Gait abnormalities and sensorimotor disturbances are principal defects in adrenomyeloneuropathy (AMN). However, to our knowledge, their association with overall impairment and neuroanatomical changes has not been defined.

Cited by 31 publications

References 27 publications

The Impact of Dynamic Balance Measures on Walking Performance in Multiple Sclerosis

The Impact of Dynamic Balance Measures on Walking Performance in Multiple Sclerosis

Auditory brainstem response findings and peripheral auditory sensitivity in adrenoleukodystrophy

Novel <b><i>ABCD1</i></b> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum

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