2020
DOI: 10.1007/s10072-020-04756-0
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Adolescent/adult-onset homocysteine remethylation disorders characterized by gait disturbance with/without psychiatric symptoms and cognitive decline: a series of seven cases

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Cited by 13 publications
(21 citation statements)
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“…As opposed to pediatric patients, the onset of the disease is often very insidious in adults, with psychiatric symptoms and slow cognitive decline, without the characteristic brain imaging anomalies from the very beginning. Mild psychiatric symptoms such as introversion and paranoia can be neglected for a long time, as shown by our case report and previous series describing patients with neuropsychiatric onset [ 11 ].…”
Section: Discussionmentioning
confidence: 68%
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“…As opposed to pediatric patients, the onset of the disease is often very insidious in adults, with psychiatric symptoms and slow cognitive decline, without the characteristic brain imaging anomalies from the very beginning. Mild psychiatric symptoms such as introversion and paranoia can be neglected for a long time, as shown by our case report and previous series describing patients with neuropsychiatric onset [ 11 ].…”
Section: Discussionmentioning
confidence: 68%
“…This notwithstanding, even among adult onset cases, there is a very variable clinical presentation associated to the very same pathogenic variants within members from the same family, as shown by the siblings described by Gold et al [ 14 ] (patient 30 Table 1 and sister with onset of symptoms at age 12), Powers et al [ 26 ] (patients 37 and 44 Table 1 ), and Boxer et al [ 27 ] (patient 41 Table 1 and sister with onset of symptoms at age 6). As in other monogenic disorders, the reason for this variability likely roots back to other environmental factors, including diet, and the rest of the genetic background acting as a phenotype modifier [ 11 ].…”
Section: Discussionmentioning
confidence: 99%
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“…However, currently, more lateonset combined MMA with homocystinuria patients have been diagnosed. Some cases have been reported in adolescence or adulthood [15][16] .…”
Section: Discussionmentioning
confidence: 99%
“…Demyelinating polyneuropathy can also be prevalent in homocysteine remethylation disorders-the adult form of cobalamin C disease (CblC) and MTHFR (methylenetetrahydrofolate reductase) deficiency causing gait-ataxia and psychiatric symptoms, often together with a cognitive decline (which are better responsive to treatment than early onset forms [41]), as well as in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) [42].…”
Section: Chronic Demyelinating Neuropathiesmentioning
confidence: 99%