Cognitive Function in Adult Adrenoleukodystrophy: Comparison with Leukoaraiosis and Multiple Sclerosis

Abstract

Cognitive evaluation of 6 cases of adult adrenoleukodystrophy (ALD) included in a brain magnetic resonance (MR) study are reported: 2 males with adrenomyeloneuropathy and 4 women heterozygous for ALD. Cognition was normal in 4 and MR scan in 2 of them. In the 2 others, there were mild modifications of the white matter. One patient suffered of visual retention disturbances with abnormalities of the white matter in MR scan. In the last, cognitive decline was observed; MR scan showed atrophy of cortex and corpus callosum and periventricular high signal areas. Comparison with leukoaraiosis in healthy adults and with multiple sclerosis suggests that there is probably a relationship between cognition and extension of brain MR abnormalities. Time of appearance and frequency of cognitive dysfunction might be explained by the natural history of each of these diseases.

Psychiatric manifestations in cerebrotendinous xanthomatosis

“…108, 109, 110, 111, 112, 113, 114, 115, 116, 117, 118, 119, 120, 121, 122, 123, 124, 125, 126, 127, 128, 129, 130, 131, 132, 133, 134, 135, 136, 137, 138, 139, 140, 141, 142, 143, 144 In most lipid storage diseases of the nervous system (neurolipidoses) or leukodystrophies, which can present at some point with acute, progressive or relapsing psychosyndromes (Tay–Sachs and Sandhoff disease, Fabry disease, metachromatic leukodystrophy, adrenoleukodystrophy, Niemann–Pick type C, ceroid neuronal lipofuscinoses), pharmacotherapy of psychiatric manifestations has either poor effect or even worsens the condition, for example, as in adult-onset GM 2 gangliosidoses, where phenothiazines and tricyclic antidepressants may have a detrimental effect by inhibiting the activity of lysosomal enzymes, thereby increasing lipid storage in neuronal cells. 115, 116, 117, 118, 119, 120, 121, 122, 123, 124, 125, 126, 127, 128, 129, 130, 131, 132, 133, 134, 135, 136, 137, 138, 139, 140, 141, 142, 143 This is a little known domain of neuropsychiatry, because neurodegenerative/neurometabolic diseases are rare and seldom end up in the principal care of the psychiatrist. 8, 115, 117, 134, 142 The latter happens when these conditions present either as complex neu...…”

Characterization of Cerebral Small Vessel Disease by Proton Spectroscopy and Morphological Magnetic Resonance

“…Despite profoundly improved MRI techniques, clinical characterization of the disease via structural imaging criteria is still missing. In particular the prevalence of cognitive disorders in this inhomogeneous patient group seems to be far from predictable [11]. …”

Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening

“…65,66 While overall IQ is typically preserved, mild or isolated impairments in specific neurocognitive domains have been noted, most frequently within the domains of executive function, [66][67][68] visuoconstruction, 67,69 verbal fluency, 67,69 and memory. [68][69][70] Psychomotor slowing has also been reported. 67,68 In a sample of 33 men with ALD and no cerebral involvement, Buermans and colleagues reported that 6 patients (18%) had borderline to impaired scores in two cognitive domains and 3 patients (9%) had borderline or impaired scores in three cognitive domains.…”

“…Generally, in the absence of cerebral involvement, men with ALD or AMN tend to have intact intellectual functioning 65,66 . While overall IQ is typically preserved, mild or isolated impairments in specific neurocognitive domains have been noted, most frequently within the domains of executive function, 66–68 visuoconstruction, 67,69 verbal fluency, 67,69 and memory 68–70 . Psychomotor slowing has also been reported 67,68 .…”