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Background Self-injurious behaviour is a clinical feature widely described in patients affected by mental retardation or psychiatric illnesses, such as psychosis or borderline personality disorder. 1 Among movement disorders, self-injury has been identified mostly in hyperkinesias, like chorea-acanthocytosis in which self-mutilating orolingual-biting is a well-recognised characteristic. 2 Nevertheless, such phenomenon can also be observed in Lesch-Nyhan syndrome (LNS), and it has recently been described in 6-pyruvoyl-tetrahydropterin synthase deficiency. 3,4 Here we report, for the first time, two cases of SCA17 presenting with self-injurious behaviour as part of their clinical symptomatology. The possible pathophysiological mechanisms underlying self-injury in hyperkinesias are further discussed. Case 1 A 66-year-old right-handed lady was diagnosed with Huntington's disease (HD)-like 4 disorder due to SCA17 mutation (43 CAG/CAA-repeats in TBP gene) at the age of 54. Disease onset was characterised by gait imbalance, falls and fidgetiness. Over the years, a progressive mood decline and cognitive deterioration accompanied the motor symptomatology. Concerning her family history, three of her siblings were similarly affected by generalised involuntary movements. On examination, she presented with motor impersistence on eyemovement assessment and tongue protrusion. Involuntary choreic movements affected the face and limbs. The gait was broad-based. Severity of ataxia was rated with the SARA scale (25/40). 5 Gait (4/8), stance (4/6) and speech (4/6) were significantly impaired; finger-chase test, nose-finger test, fast alternating movements and heel-shin test were as well severely affected (3/4); on sitting, there were slight difficulties with intermittent sway (1/4). Brain MRI disclosed a severe cerebellar volume loss. On the neuropsychological assessment, the most notable finding was a significant executive dysfunction. All the other domains assessed, including memory (MMSE 21/30), 6 visual perceptual skills, reading, naming, praxis and speed of information processing, were equally impaired.

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Background and purpose: Although Labrune syndrome is a well-known disorder characterized by a typical neuroradiological triad, namely leukoencephalopathy, intracranial calcifications and cysts, there are no reports of systemic involvement in this disorder. This paper attempts to describe a peculiar clinical manifestation related to a novel mutation in the SNORD118 gene. Methods: Clinical examination, brain and total-body imaging, and neurophysiological and ophthalmological investigations were performed. Amplification of the SNORD118 gene and Sanger sequencing were integrated to investigate potential causative mutations. Results: A 69-year-old woman, with a long history of episodes of vertigo and gait imbalance, was referred to our hospital for progressive cognitive and motor deterioration. Computed tomography and magnetic resonance imaging disclosed diffuse bilateral leukoencephalopathy in periventricular and deep white matter, widespread calcifications and numerous cysts in the brain, liver, pancreas and kidneys. The genetic analysis revealed two biallelic variants in the SNORD118 gene, one of which is novel (n.60G>C). Conclusions: This is the first report of adult-onset Labrune syndrome with an unusual systemic involvement presenting a novel mutation in the SNORD118 gene.