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OBJECTIVE Boucher-Neuhauser Syndrome (BNS) is a rare autosomal recessive disorder characterized by hypogonadotropic hypogonadism, spinocerebellar ataxia, and chorioretinal syndrome, and associated with a variant in the PNPLA6 gene. Although many reports have mentioned the presence of cognitive impairment, a neuropsychological assessment of a BNS case has never been published. Here, we provide a detailed description of a young adult patient with BNS who has a homozygous pathogenic variant in the PNPLA6 gene. METHOD A 21-year-old man with progressive ataxia and a history of hypogonadotropic hypogonadism and chorioretinal dystrophy was diagnosed with BNS. A comprehensive cognitive evaluation was performed, requiring the ad hoc selection and adaption of neuropsychological tests to overcome visual and motor impairments that characterize this syndrome. RESULTS The patient presented an intact global cognitive profile with selective executive dysfunction and mild verbal reasoning dysfunction. In particular, attentional-inhibitory control, working memory, and set switching were impaired, and inadequate development of conceptual knowledge and abstract reasoning was observed. CONCLUSIONS This is the first report of an explicitly documented comprehensive neuropsychological assessment in a patient with BNS. The battery we composed is an example of a methodology that can be used to conduct a detailed cognitive examination without being penalized for physical impairment.Further studies are needed to define the typical cognitive features that characterize BNS and possibly identify its cognitive phenotype(s).

This retrospective study aims to assess cognitive involvement in pre-AIDS, not drug abuser subjects and to determine whether CD4 status or disease stage best correlates with cognitive changes that may portend development of ADC. 328 cases were analyzed. No differences in psychometric performance in relation to CDC stage were found. Instead, patients with CD4 < 200/μl performed worse overall, with a statistically significant difference for Digit Symbol, Corsi Test, Block Design and HIVDA Scale. Even if cognitive decline is not evident in the early phase of HIV infection, CD4 count seems the more sensitive early indicator of cognitive changes adequately pointed out by the HIVDA Scale, which could be considered a useful screening tool for cognitive deficit.

To correlate cerebral histopathological and immunohistochemical changes in the neuroclinical features of the AIDS dementia complex (ADC), autopsy results of 28 ADC patients were related, in a retrospective analysis, to scores on a standardised neurological examination performed at neurologic onset. From a histopathological point of view, the cases were classified as follows: 9 cases of HIV leucoencephalopathy (HIVL; diffuse myelin damage and rare microglial nodules), 7 cases of HIV encephalitis (HIVE; several microglial nodules and no myelin damage) and 12 cases of mixed HIVL and HIVE (HIVL-E). The groups differed significantly with respect to symptoms and CD4 count at neurologic onset, survival and neurological impairment. Immunohistochemically, the interstitial component (p24-positive cells scattered singly within the white matter) was significantly more prevalent in HIVL, and the micronodular component (p24-positive cells confined within microglial nodules) in HIVE. Neurological damage was worse in cases with a high prevalence of interstitial component or a low prevalence of micronodular component. HIVE, HIVL and HIVL-E are distinct clinical forms of ADC. Neurological impairment is related to white matter damage.

Fifty-eight HIV-positive drug abusers and 22 HIV-positive nondrug abusers at stages II-III and IV of the Centers for Disease Control classification were evaluated neuropsychologically. The study confirmed previous findings that drug abuse has a negative influence on cognitive function. It also emerges that seropositivity affects cognitive function, although the poor performance of group II-III patients compared to group IV may be explained by factors related to seropositivity (anxiety and panic) rather than the disease itself. It is concluded that disease-related factors probably determine cognitive performance in the earlier stages of HIV infection.