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May 1998 - present
Publications
Publications (99)
Background and Aims
Multiple system atrophy (MSA) is a sporadic alpha-synucleinopathy with prominent autonomic features. To evaluate the prevalence of all NMS in MSA, including and beyond autonomic dysfunction, a systematic review was conducted. To our knowledge, this is the first such study.
Method
A systematic review of studies of >10 subjects w...
Background
Patients with Multiple System Atrophy (MSA) frequently report non-motor symptoms, and several research groups have highlighted this.
Objective
We systematically searched for and reviewed papers assessing prevalence of non-motor symptoms (NMS) in MSA patients as reported in the scientific literature.
Methods
We performed a systematic re...
Background:
Cerebellar ataxias comprise a large group of heterogeneous disorders with both motor and non-motor symptoms (NMS).
Objective:
We wanted to ascertain the reported prevalence of NMS in different subtypes of hereditary cerebellar ataxias.
Methods:
Systematic review of studies of hereditary cerebellar ataxias (involving >5 patients) wh...
The progressive ataxias are a group of rare and complicated neurological disorders, knowledge of which is often poor among healthcare professionals (HCPs). The patient support group Ataxia UK, recognising the lack of awareness of this group of conditions, has developed medical guidelines for the diagnosis and management of ataxia. Although ataxia c...
Progressive ataxia in adults can be difficult to diagnose, owing to its heterogeneity and the rarity of individual causes. Many patients remain undiagnosed (‘idiopathic’ ataxia). This paper provides suggested diagnostic pathways for the general neurologist, based on Ataxia UK’s guidelines for professionals. MR brain scanning can provide diagnostic...
A previously healthy 42-year-old man noticed that his right foot was ‘kicking against rocks’ when he was hill walking. Over the next 8 years, he developed slowly worsening mobility, eventually having to rely on a stick due to right leg ‘spasms’. His cognition, speech, swallowing, upper limb function and sphincters were unaffected. There was no fami...
We aimed to establish whether recall of elements of the neurological examination can be improved by use of a simple patient assessment score.
In a previous study we demonstrated that in-patients referred to neurology at two United Kingdom (UK) hospitals were not fully examined prior to referral; we therefore designed a larger quality improvement re...
Thunderclap headache is a common emergency department presentation. Although subarachnoid hemorrhage (SAH) should be the first diagnosis to exclude, reversible cerebral vasoconstriction syndrome (RCVS) is an important alternative cause, which may be commoner than appreciated. Reversible cerebral vasoconstriction syndrome is characterized by multifo...
Three women with neurological syndromes associated with Herpes Simplex type 2 (HSV2), diagnosed by PCR, are presented. Patient 1 had lymphocytic meningitis with no antecedent or concurrent genital symptoms. Patient 2 had chronic lymphocytic meningitis in the context of immunosuppressive medication and Mollaret cells in the cerebrospinal fluid. She...
Phobias are among the few intensely fearful experiences we regularly have in our everyday lives, yet the brain basis of phobic responses remains incompletely understood. Here we describe the case of a 71-year-old patient with a typical clinicoanatomical syndrome of semantic dementia led by selective (predominantly right-sided) temporal lobe atrophy...
A 31-year old female presented with progressive loss of motor and social skills, on a background of previously static global developmental delay. Her history and examination were consistent with atypical Rett syndrome, but MECP2 sequencing failed to demonstrate a pathogenic mutation. Magnetic resonance imaging (MRI) of brain in adulthood revealed a...
Many neurological conditions are caused by immensely heterogeneous gene mutations. The diagnostic process is often long and complex with most patients undergoing multiple invasive and costly investigations without ever reaching a conclusive molecular diagnosis. The advent of massively parallel, next-generation sequencing promises to revolutionize g...
Phobias are among the few intensely fearful experiences we regularly have in our everyday lives, yet the brain basis of phobic responses remains incompletely understood. Here we describe the case of a 71 year old patient with a typical clinico-anatomical syndrome of semantic dementia led by selective (predominantly right-sided) temporal lobe atroph...
Neurodegenerative disorders with high iron in the basal ganglia encompass an expanding collection of single gene disorders collectively known as neurodegeneration with brain iron accumulation. These disorders can largely be distinguished from one another by their associated clinical and neuroimaging features. The aim of this study was to define the...
A 32-year-old woman presented with low pressure headache 3 days after delivery of her baby. An assessment of postdural puncture headache was made. This was initially treated with analgesia, caffeine, and fluids for the presumed cerebrospinal fluid (CSF) leak. The woman was readmitted two days after her hospital discharge with generalised seizures....
Tetanus is rare infection that can imitate other disorders and be deadly if left untreated. This article highlights a potential neurosurgical pitfall, where radiological findings became a detractor in the diagnosis of a patient with generalized tetanus. This reminds us of the importance of ensuring proper tetanus prophylaxis, and prompt recognition...
“Are you with us, or not?” is an unsound principle on which to embark on reform, because it risks turning away many opinions …
To evaluate the effects on clinical outcome of dictating correspondence in front of patients and sending them copies of letters.
Observational study of the practices of two consultants, one of whom (RDS) routinely dictated letters in front of his patients and almost always sent them a copy while the other (AM) did neither. Questionnaires were compl...
Patients in the UK have a right to receive copies of correspondence relating to their treatment, and some clinicians dictate letters in their presence too. Government and patient advocates favour these initiatives but neither has been evaluated to see if clinical outcome is influenced. An observational study of the practices of two Consultant Neuro...
Mitochondrial diseases are characterized by wide phenotypic and genetic variability, but presentations in adults with akinetic rigidity and hyperkinetic movement disorders are rare.
To describe clinically a subject with progressive neurodegeneration characterized by psychosis, dementia, and akinesia-rigidity, and to associate this phenotype with a...
Parkinson's disease (PD) is a common neurodegenerative disorder, for which environmental and/or genetic factors are postulated as possible causes. Over the past decade there has been a substantial increase in the knowledge of the genetics of PD. Mutations in Leucine-rich repeat kinase 2 (LRRK2) are the most frequent genetic causes of PD, and the co...
We describe the case of a patient with confirmed voltage-gated potassium channel antibody-associated encephalitis (VGKC-Ab). MRI studies revealed bilateral hyper-intensity in the hippocampi, with their volumes preserved. At presentation, the patient's anterograde and retrograde memory skills were found to be impaired and he showed fluctuation in hi...
Studies of specific populations have provided invaluable knowledge about Parkinson's disease (PD), especially in the field of genetics. The present report systematically reviews the medical literature on PD in Arabs. Medline and Embase were searched, and 24 article were identified: genetic (n = 17), epidemiological (n = 3), and clinical series (n =...
The spectrum of human transmissible spongiform encephalopathies, or prion diseases, include sporadic Creutzfeldt-Jakob disease
(CJD), familial CJD, iatrogenic CJD, and kuru. Although the disorders are rare and currently untreatable, establishing the
diagnosis is of considerable importance for counseling relatives and in view of the ongoing epidemio...
Although a molecular diagnosis is possible in most patients having Charcot-Marie-Tooth disease (CMT), recessively inherited and axonal neuropathies still present a diagnostic challenge.
To determine the cause of axonal CMT type 2 in 3 siblings.
Case report.
Academic research.
Three siblings who subsequently developed profound cerebellar ataxia.
Mus...
A 56-year-old man presented to hospital with a 6-month history of recurrent episodes of altered behavior and 'odd' episodes. He had become apathetic and uninterested in his family. He had no relevant past medical or family history. General and physical neurological examinations were unremarkable, as was bedside cognitive testing.
Brain MRI scan, 24...
Pathogenic point mutations in the mitochondrial MTND1 gene have previously been described in association with two distinct clinical phenotypes -- Leber hereditary optic neuropathy (LHON) and mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Here we report the first heteroplasmic mitochondrial DNA (mtDNA) poin...
The authors investigated whether cases of sporadic Creutzfeldt-Jakob disease (CJD) had lived closer to one another at some time in life than individuals without sporadic CJD. Such a phenomenon would be compatible with some cases resulting from transmission.
UK sporadic CJD cases occurring from 1990 to 1998 were identified. Age-, sex- and hospital-m...
Although the evidence does not suggest that contaminated ophthalmic instruments represent a risk of onward transmission of sporadic CJD, this conclusion should be treated with caution
The occurrence of variant Creutzfeldt-Jakob disease (vCJD) and the probable causal link with bovine spongiform encephalopathy (BSE) in cattle have increased interest...
Hyperekplexia (HE), or startle disease, is usually a familial disorder associated with mutations in the glycine receptor alpha1 subunit gene (GLRA1), characterised by exaggerated startle reactions to unexpected auditory, somaesthetic and visual stimuli. Non-familial cases may be idiopathic, or associated with pathology usually in the brainstem or r...
The authors report the case of a 60-year-old man with acromegaly, who developed narcolepsy 2 weeks after completing radiotherapy for a pituitary adenoma. Cataplexy and sleepiness were predominant symptoms. Onset of narcolepsy is unusual at this age and the temporal relationship following radiotherapy suggests this treatment was implicated. His CSF...
At the bedside it was noted that, after ocular fundoscopy, patients with migraine complained more often of an afterimage than did non-migraineurs. This phenomenon was then investigated in consecutive patients attending a general neurology outpatient clinic.
The relative risk for the diagnosis of migraine in patients reporting an after-image was 2.9...
Medical risk factors for Creutzfeldt-Jakob disease (CJD) were analyzed in a prospective ongoing case-control study based on European CJD surveillance. Detailed data on past and recent medical history were analyzed in 405 cases and controls matched by sex, age, and hospital. Data were correlated with polymorphism at codon 129 of the prion protein ge...
Medical risk factors for Creutzfeldt-Jakob disease (CJD) were analyzed in a prospective ongoing case-control study based on European CJD surveillance. Detailed data on past and recent medical history were analyzed in 405 cases and controls matched by sex, age, and hospital. Data were correlated with polymorphism at codon 129 of the prion protein ge...
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary condition with onset in mid-adulthood and is associated with mutations in the Notch-3 gene. (Joutel, A., Corepechot, C., Ducros, A., Vahedi, K., Chabriat, H., Mouton, P., Alamowitch, S., Domenda, V., Cecilion, M., Marechal, J., Vayss...
There cannot have been many medical publications this decade that have had an impact to equal that of the paper by Robert Will and colleagues on a ‘new variant’ of Creutzfeldt–Jakob disease (CJD), published in the Lancet in April 1996 (Will et al, 1996). This did not simply affect the scientific community, but also farming, economics, politics and...
Genetic anticipation, i.e. increasing disease severity and decreasing age of onset from one generation to the next, is observed in a number of diseases, including myotonic dystrophy type 1, Huntington's disease and several of the spinocerebellar ataxias. All of these disorders are associated with the expansion of a trinucleotide repeat and array le...
The Lambert-Eaton myasthenic syndrome is a neuromuscular disorder characterised by defective neurotransmitter release at autonomic neurones and presynaptic terminals of the neuromuscular junction. It is caused by an IgG autoantibody formed against especially the P/Q type of voltage-gated calcium channels (VGCC) which is an essential component of th...
A sixty seven year old, retired steel worker said that his left arm did not seem to belong to him any longer and that it “did what it liked”. The problem had developed insidiously, and had been progressing for about 3 months. His examination confirmed deafferentation …
The distribution of sodium amytal and its effect on regional cerebral perfusion during the intracarotid amytal (Wada) test were investigated using high-resolution hexamethyl propyleneamine oxime (HMPAO) SPECT coregistered with the patient's MRI dataset.
Twenty patients underwent SPECT after intravenous HMPAO injection, and 5 patients had both intra...
A 55-year-old diabetic and hypertensive woman presented acutely with vertigo and vomiting. She had right-sided ataxia, horizontal right gaze-evoked nystagmus, and a right miosis. Later, a right ptosis was noted. Temperature and pinprick sensations on the right side of the face and left side of the body were disturbed. Examination of the precordium...
Friedreich’s ataxia is a progressive neurodegenerative disorder of autosomal recessive inheritance, in which gait ataxia followed by upper limb ataxia, dysarthria, nystagmus, areflexia, loss of joint position sense, and spastic paraparesis develop from the second decade of life.1 It is the commonest hereditary ataxia, with a prevalence of 1 in 50 0...
To screen for the SCA-7 mutation in autosomal dominant cerebellar ataxia (ADCA) families and study genotype/phenotype correlations.
The association of cerebellar ataxia and progressive pigmentary macular dystrophy clinically defines a distinct form of ADCA classified as SCA-7. SCA-7 is caused by expansion of a highly unstable CAG repeat that lies i...
After the occurrence of bovine spongiform encephalopathy (BSE), there has been concern that transmission of BSE to the human population might result in a change in the epidemiological characteristics of Creutzfeldt-Jakob disease (CJD). A collaborative study of CJD in the European Union was performed from 1993 to 1995, to compare data from national...
Creutzfeldt-Jakob disease (CJD) is a transmissible spongiform encephalopathy. Genetic and iatrogenic forms have been recognised but most are sporadic and of unknown cause. We have studied risk factors for CJD as part of the 1993-95 European Union collaborative studies of CJD in Europe.
The 405 patients with definite or probable CJD who took part in...
Background
Creutzfeldt-Jakob disease (CJD) is a transmissible spongiform encephalopathy. Genetic and iatrogenic forms have been recognised but most are sporadic and of unknown cause. We have studied risk factors for CJD as part of the 1993-95 European Union collaborative studies of CJD in Europe.
Methods
The 405 patients with definite or probable...
Creutzfeldt-Jakob disease (CJD) is typically described as a pre-senile dementia. However, cases do occur in the elderly and a case of sporadic CJD in an 86-year-old patient is described. The database of the UK national surveillance unit has been studied, and the age-specific incidences for various age groups over the period 1980-93 calculated. Case...
A patient with chronic liver disease and portal hypertension who developed acute spinal cord compression following transjugular intrahepatic portosystemic stent shunting is described. Radiological and pathological examinations revealed an epidural haematoma.
To identify changes in the occurrence of Creutzfeldt-Jakob disease that might be related to the epidemic of bovine spongiform encephalopathy.
Epidemiological surveillance of the United Kingdom population for Creutzfeldt-Jakob disease based on (a) referral of suspected cases by neurologists, neuropathologists, and neurophysiologists and (b) death ce...
Creutzfeldt-Jakob disease (CJD) is a transmissible neurodegenerative disorder characterized by the accumulation of aggregates of a cellular protein, PrP, in the brain. In both human and animals, genetic alterations to the gene encoding PrP (PRNP in human) modulate susceptibility to CJD. The recent epidemic of bovine spongi-form encephalopathy in th...
Prion gene sequence is thought to affect the phenotypic expression of prion disease and the E2 variant of apolipoprotein E (Apo E) can be neuroprotective in dementia. We determined codon 129 of the prion gene and the Apo E variants in Creutzfeldt-Jakob disease (CJD) using PCR and restriction digest. We found a significant correlation between valine...
A case of familial Creutzfeldt-Jakob disease associated with a 144 base pair insertion in the open reading frame of the prion protein gene is described. Sequencing of the mutated allele showed an arrangement of six octapeptide repeats, distinct from that of a recently described British family with an insertion of similar size. Thirteen years previo...
A patient who developed pure alexia without agraphia following a stroke is described. An infarction of the left occipital pole was demonstrated by Magnetic Resonance Imaging (MRI). The literature on this rare syndrome is reviewed, and the localisation of damage in relation to the clinical findings discussed.
A systematic study of 'prion protein' genotype in cases of sporadic Creutzfeldt-Jakob disease showing amyloid plaques staining with anti-prion protein antibody has been performed. This revealed a relative excess of cases with valine at position 129 of the gene's open reading frame. The observation emphasises the importance of this site of common po...
A family in which three members presented with cerebral adrenoleucodystrophy in adulthood is described. The implications on our understanding for the mechanisms controlling the phenotypic expression of this genetic disorder are discussed.
Creutzfeldt-Jakob disease is a rare, fatal neurodegenerative disease characterised by spongiform encephalopathy and transmissibility. The majority of cases of the disease occur sporadically with no known causation. However, in a small number of well documented cases, the disease has developed following the use of cadaver-derived products, or after...
A patient with chronic inflammatory demyelinating polyneuropathy (ClDP) and centrel demyelinating disease is desoribed in whom striking nodular filling defects on multiple lumbar–sacral nerve roots, mimicking neurofibromata, were observed at myelography and magnetic resonance imaging. We suggest that these lesions are secondary to recurrent segment...
Epidemiological surveillance of Creutzfeldt-Jakob disease (CJD) in the UK identified 21 patients who had received a blood transfusion and 29 who had donated blood, out of a total of 202 definite and probable cases. This frequency of blood transfusion or donation did not differ from that in age and sex matched controls, and the clinical features in...
Four cases of intracerebral haemorrhage related to the use of amphetamine or ‘Ecstasy’ (methylene dioxy methyl amphetamine) are presented.
