Searching for tics

Introduction: In the current edition, Szejko and colleagues describe a subset of patients with Gilles de la Tourette syndrome (GTS) who had dystonic tics (DTs), which occurred more frequently in those with a greater number of tics and likely contribute to impairment. Clinical Reflections: DTs manifest as an abnormal posture that may be difficult to distinguish from other movements, such as dystonia and other tic types. Electromyography is an invaluable tool that can aid clinicians in making this important distinction. Clinical Implications: Accurately diagnosing these movements can significantly impact treatment decisions and contribute to more homogenous research populations

Sexual dysfunction in Huntington’s Disease: what do we really know?

Introduction. In this edition, Szymuś et al. conducted a systematic review revealing sexual dysfunction to be more prevalent in patients with Huntington’s Disease compared to controls.Clinical reflections. Sexual dysfunction in HD (SDHD) is common and significantly affects patient quality of life. Commonly used HD rating scales and treatment guidelines do not explicitly address SDHD, and research studies are limited by size and methodology.Clinical implications. It is important that validated sexual dysfunction screening tools be utilised in clinical and researchsettings

Spinocerebellar ataxia 15: A phenotypic review and expansion

Spinocerebellar ataxia 15 (SCA15) is a clinically heterogeneous movement disorder characterized by the adult onset of slowly progressive cerebellar ataxia. ITPR1 is the SCA15 causative gene. However, despite numerous reports of genetically-confirmed SCA15, phenotypic uncertainty persists. We reviewed the phenotypes of 60 patients for whom SCA15 was confirmed by the presence of a genetic deletion involving ITPR1. The most prevalent symptoms were gait ataxia (88.3%), dysarthria (75.0%), nystagmus (73.3%), and limb ataxia (71.7%). We also present a novel SCA15 phenotype in a woman with an ITPR1 variant found to have hydrocephalus that improved with ventriculoperitoneal shunting. This is the first reported case of hydrocephalus associated with SCA15. In this review, we analyzed previously reported SCA15 phenotypes and present a novel SCA15 phenotype. We also address important considerations for evaluating patients with complex hereditary movement disorders

Neuropsychological profile of CSF1R-related leukoencephalopathy

IntroductionThe neuropsychological profile of CSF1R-related leukoencephalopathy (CRL) is undefined. This study defines the profile, contrasts it with that of other dementia syndromes, and highlights measures sensitive to cognitive impairment.MethodsWe administered a standardized battery of neuropsychological tests to five consecutive CRL cases.ResultsThe neuropsychological profile of CRL reflects impaired general cognitive function, processing speed, executive function, speeded visual problem solving, verbal fluency, and self-reported depression and anxiety. Confrontation naming and memory are preserved. Within cognitive domains, certain measures more frequently identified impairment than others.DiscussionCRL impairs general cognitive function, processing speed, executive function. Language and visual problem solving may be impaired if processing speed is required. Confrontation naming and memory are uniquely preserved, contrasting CRL to other dementia syndromes. Cognitive screens excluding processing speed and executive function may not detect CRL cognitive manifestations. Findings sharply define cognitive impairment of CRL and inform cognitive test selection

Normal pressure hydrocephalus, or Hakim syndrome: review and update

This review makes the case that idiopathic normal pressure hydrocephalus (iNPH) is an outdated term because new information indicates that the syndrome is less idiopathic and that the cerebrospinal fluid (CSF) pressure of normal individuals is affected by several factors such as body mass index, age, and sex. Our review updates the epidemiology of iNPH and provides a clinical approach to the management of these patients. All the clinical features of iNPH are common in older individuals, and each has many causes, so the diagnosis is difficult. The first step in reaching an accurate diagnosis is to address the possible contributory factors to the gait abnormality and determine what if any role iNPH may be playing. The two best diagnostic tests are neuroimaging and cerebrospinal fluid (CSF) diversion (large volume lumbar puncture or external lumbar drainage) with pre/post gait evaluation. This review provides an update on the growing evidence that vascular disease, impaired CSF absorption, congenital, and genetic factors all contribute to the pathogenesis of iNPH. We suggest replacing the term iNPH with the term Hakim syndrome (HS) in acknowledgement of the first person to describe this syndrome. Lastly, we discuss the improvements in shunt technology and surgical techniques that have decreased the risks and long-term complications of shunt surgery