We report the case of a 42-year-old man (patient CL) who developed a particular profile of amnesia with two dates of onset. At the first onset, the patient suffered a mild/lmoderate injury that accounts for an initial anterograde and mild retrograde memory impairment. At the second onset, 8 months later, he suffered a sudden and persistent loss of personal identity and severe retrograde amnesia. We report an extensive neuropsychological investigation of his memory systems carried out 18 months after the second onset. Results indicated mild executive dysfunction (primary memory), intact procedural skills and perceptual representational system. In accordance with Kopelman's methodological recommendations, we have reliably compared post- and pre-onset semantic and episodic memory using strict matched procedures. We found that post-onset, though not pre-onset semantic (autobiographical and nonautobiographical) memory was entirely preserved. Post-onset episodic autobiographical memory was not intact, however, although it was clearly less affected compared with the total absence of the pre-onset memory. Moreover, a novel and high standard investigation of the subjective states of consciousness, which accompanied retrieval of autobiographical memories via the Remember/lKnow (R/lK) paradigm with a long time interval from the present, demonstrated a deterioration of R responses compared to matched controls. Interestingly, this result showed deficient autonoetic consciousness and suggested an underlying accelerated forgetting rate for post-onset autobiographical episodic memories. Last, a [18F] fluorodeoxyglucose resting PET study revealed a significant right-sided ventral frontal lobe hypometabolism in the absence of overt structural lesions. The involvement of this region is consistent with CL's autobiographical retrograde amnesia and his inability to re-experience information concerning the self across time. In our particular case, characterised by two dates of onset, the attribution of causality is thoroughly examined in terms of CL's organic and psychogenic aspects.

Myoclonus-dystonia syndrome (MDS) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions, associated with psychiatric manifestations. MDS is usually considered as a benign disease. In most of the families, MDS is linked to chromosome 7q21 and mutations within epsilon-sarcoglycan (SGCE) gene have been recently described. We report a MDS family with a severe and heterogeneous phenotype, including myoclonus with important functional impact and several psychiatric features, characterized by obsessive-compulsive disorder, depression, and anxiety. This phenotype was shown to be associated with a novel truncating mutation located within exon 4 of SGCE.

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease caused by a deficiency of the mitochondrial enzyme 27-sterol hydroxylase (CYP27). We report a 53-year-old man, with an unusual phenotype of CTX. He had xanthomas since adolescence. He had no mental retardation and developed at 44 years a progressive neuropsychiatric phenotype, suggestive of fronto-temporal dementia according to clinical Neary criteria. Cataract and ataxia were absent. Cerebral MRI revealed diffuse hyperintense T2 abnormalities in the supratentorial white matter without cerebellar atrophy or lesions, while Technetium-99m-ECD brain SPECT revealed a severe cerebellar hypoperfusion. Serum cholestanol level was elevated with excessive urinary bile alcohols excretion. Mutation analysis revealed that he was compound heterozygous for two mutations in the CYP27A1 gene: 1016 C > T (exon 5) on one allele and a novel mutation, 1435C > G (exon 8) on the other allele. A follow-up study was conducted to evaluate the effects of chenodeoxycholic acid (CDCA) and simvastatin treatment during 3 years. In spite of this treatment, cognitive functions declined but no other signs of neurological deterioration appeared.

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