Motor tics, stereotypies, and self-flagellation in Primrose syndrome

Department of Neurology, University of Cincinnati, Gardner Family Center for Parkinson's Disease and Movement Disorders, Cincinnati, OH, USA.
Neurology (Impact Factor: 8.29). 07/2010; 75(3):284-6. DOI: 10.1212/WNL.0b013e3181e8e754
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    • "This region encompasses Fibin (Fin Bud Initiation Factor Homolog) and BBOX1 (butyrobetaine-gamma 2-oxoglutarate dioxygenase 1) (Figure 2B), a TGF-beta dependent gene that encodes a secreted protein essential for pectoral fin bud initiation in zebrafish [15,16] and an essential component of de novo carnitine biosynthesis [5,10], respectively. A similar almost fully overlapping heterozygous 225 kb deletion (Figure 2B) was suggested to be the cause of Primrose syndrome (OMIM#259050) at the heterozygote state [17]. The absence of ossified ear cartilage and muscle wasting specific to this pathology in the proband and both her parents, who are homo- and heterozygote for this rearrangement, respectively, goes against the implication of this deletion in this syndrome. "
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    ABSTRACT: Background Carnitine is a key molecule in energy metabolism that helps transport activated fatty acids into the mitochondria. Its homeostasis is achieved through oral intake, renal reabsorption and de novo biosynthesis. Unlike dietary intake and renal reabsorption, the importance of de novo biosynthesis pathway in carnitine homeostasis remains unclear, due to lack of animal models and description of a single patient defective in this pathway. Case presentation We identified by array comparative genomic hybridization a 42 months-old girl homozygote for a 221 Kb interstitial deletions at 11p14.2, that overlaps the genes encoding Fibin and butyrobetaine-gamma 2-oxoglutarate dioxygenase 1 (BBOX1), an enzyme essential for the biosynthesis of carnitine de novo. She presented microcephaly, speech delay, growth retardation and minor facial anomalies. The levels of almost all evaluated metabolites were normal. Her serum level of free carnitine was at the lower limit of the reference range, while her acylcarnitine to free carnitine ratio was normal. Conclusions We present an individual with a completely defective carnitine de novo biosynthesis. This condition results in mildly decreased free carnitine level, but not in clinical manifestations characteristic of carnitine deficiency disorders, suggesting that dietary carnitine intake and renal reabsorption are sufficient to carnitine homeostasis. Our results also demonstrate that haploinsufficiency of BBOX1 and/or Fibin is not associated with Primrose syndrome as previously suggested.
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    ABSTRACT: Primrose syndrome is a unique condition of intellectual disability, dysmorphic facial features, and specific minor abnormalities including large calcified ear auricles. Only six patients have been previously reported. We describe a Brazilian boy with the striking similar facies and the main clinical findings that reinforced the singular phenotype of this rare disorder. The key features of all patients already published were compared. Our young patient has abnormalities that were not observed in preceding reports: nail dysplasia and hyperuricemia.
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    ABSTRACT: This chapter addresses research applications of transcranial magnetic stimulation (TMS) in Tourette syndrome (TS). TS is a primary, idiopathic, neurological disorder characterized by multiple motor and vocal tics of childhood onset, with duration greater than 1 year, and associated in the majority of cases with attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and/or other psychiatric disorders. The majority of the chapter is a critical synopsis of case-control studies applying basic single- and paired-pulse TMS techniques to "resting" motor cortex. Newer applications of theta-burst stimulation are also analyzed. A number of intriguing findings have emerged, which may reflect abnormalities in several disrupted inhibitory or modulatory pathways that may underlie the tendency to manifest tics as well as commonly co-occurring problems such as ADHD and OCD. Chapter sections are organized by type of TMS measurement, with each section describing briefly the technique, the pitfalls of the technique with regard to the above-described challenges, the findings in TS using that technique, and the possible implications for those findings in furthering our understanding of TS. Possible future applications for TMS in studying TS are also discussed.
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