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Case Reports
. 2014 Nov;3(4):162-5.
doi: 10.5582/irdr.2014.01023.

Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two cases

Zukhrofi Muzar  1 , Patrick E Adams  2 , Andrea Schneider  2 , Randi J Hagerman  2 , Reymundo Lozano  2
Affiliations
Case Reports

Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two cases

Zukhrofi Muzar et al. Intractable Rare Dis Res. 2014 Nov.

Abstract

A debilitating late-onset disorder of the premutation in the FMR1 gene is the neurodegenerative disorder fragile X-associated tremor ataxia syndrome (FXTAS). We report two patients with FXTAS who have a history of substance abuse (opiates, alcohol, and cocaine) which may have exacerbated their rapid neurological deterioration with FXTAS. There has been no case report regarding the role of substance abuse in onset, progression, and severity of FXTAS symptoms. However, research has shown that substance abuse can have a negative impact on several neurodegenerative diseases, and we propose that in these cases, substance abuse contributed to a faster progression of FXTAS as well as exacerbated white matter disease.

Keywords: FXTAS; Substance abuse; neurological deterioration; opiates; premutation.

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Figures

Figure 1.
Figure 1.
Southern blot results of two patients. 1Kb ladder size marker: lane 1 and 6. Lane 2 and 5: normal female control and full mutation male, respectively. Lane 3 and 4 showing the presence of a premutation allele in patient 1 and 2 respectively. CGG repeat sizes were measured by PCR analysis.
Figure 2.
Figure 2.
Tesla MRI (1.5): T1 (A1), T2 FLAIR (A2), T2 (A3). 3 Tesla MRI: MPRAGE (B1), T2-FLAIR (B2), T2-TSE (B3); shown by arrows: Case 1: Moderate cerebral (A1) and mild cerebellar (not shown) volume loss, periventricular white matter lesions affecting anterior and posterior horns, bilaterally (A2). No white matter changes in the middle cerebellar peduncles (A3). Case 2: Moderate cerebral (B1), mild increased white matter changes in the middle cerebellar peduncles (B3) and pons (B2), moderately thin truncus of the corpus callosum (B2), with severe increased T2 signal intensity in both the truncus and the splenium of the corpus callosum (B2).
Figure 3.
Figure 3.
Median onset of pain symptoms, tremor, ataxia, falls, dependence on walking aid and death in two patients with FXTAS and addictive substance abuse.
See this image and copyright information in PMC

References

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