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Danon disease patients present with neurological manifestations in the form of intellectual dysfunction [ 25- 27].
We observed behavioral changes in these mice which relate to neuromuscular and intellectual dysfunction in patients.
Intellectual dysfunction observed in the human disease suggests a pivotal role of LAMP-2 within brain.
Danon disease patients suffer from severe skeletal and cardiac myopathy as well as intellectual dysfunction [ 25- 27].
Mutations within the Lamp2 gene cause Danon disease, an X-linked lysosomal storage disorder characterized by (cardio myopathy and intellectual dysfunction.
However, it is unclear how much of the negative effects of ADHD on disability and social/academic functioning in TS patients is caused by ADHD-related intellectual dysfunction.
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Patients with microdeletions in 2q23.1 typically present with intellectual disability, motor dysfunction, seizures, microcephaly, and craniofacial abnormalities (van Bon et al, 2010).
Cognitive and behavioural outcomes in individuals exposed to alcohol in utero include intellectual impairment, adaptive dysfunction and deficits in executive functioning, learning and memory [ 2].
Early hypo- or hyperthyroidism or thyroid receptor alterations can cause permanent behavioral, intellectual, and neurologic dysfunction, particularly during the second and third months of gestation (Utiger 1999).
80 In considering potential therapies for myotonic dystrophy, however, it is important to recognize that the CNS manifestations of this disease (executive dysfunction, intellectual disability, sleep dysregulation), are frequently more disabling than muscle weakness.
Mutations in Erlin2 have been linked to human disease, including intellectual disability, motor dysfunction, hereditary spastic paraplegia, and juvenile primary lateral sclerosis (Al-Saif et al., 2012; Al-Yahyaee et al., 2006; Alazami et al., 2011; Wakil et al., 2013; Yildirim et al., 2011).
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