Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging
- Clemente Dato, MD
- Guglielmo Capaldo, MD
- Chiara Terracciano, MD, PhD
- Filomena Napolitano, MSc, PhD
- Alessandra D'Amico, MD
- Sabina Pappatà, MD
- Filippo Maria Santorelli, MD, PhD
- Giuseppe Di Iorio, MD
- Simone Sampaolo, MD, PhD
- Mariarosa AB Melone, MD
DOIAbstract
X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease affecting the nervous system and the adrenal glands. It is caused by a mutation of the ABCD1 gene, resulting in the impaired degradation of very long-chain fatty acids and their subsequent accumulation in several organs and tissues. X-ALD is notable for its high phenotypical variability, that includes isolated adrenocortical insufficiency, slowly progressive myelopathy with paraparesis, ataxia, and peripheral neuropathy to severe childhood cerebral forms.Here, we describe the case of an X-ALD patient with a p.Gly343Val mutation in ABCD1 gene, who presented in adulthood with a spinal syndrome of mild severity, and later developed a progressive cognitive and behaviora...
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