Publications by authors named "Sofie F M Bhatti"

Background: Tremors have been reported as a neurological sign in cats with hepatic encephalopathy due to congenital portosystemic shunts (HE-CPSS) or postattenuation neurological syndrome (PANS).

Methods: The clinical records of cats diagnosed with HE-CPSS and manifesting tremors between 2003 and 2023 were retrospectively reviewed to characterise the clinical features of the tremors.

Results: Nineteen cats with HE-CPSS were included, of which 17 manifested tremors at admission and two had PANS.

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X-linked recessive dystrophinopathies are the most common muscular dystrophies (MDs) in humans and dogs. To date, 20 breed-specific MD-associated variants are described in the canine dystrophin gene (DMD), including one associated with dystrophin-deficient MD in the Border Collie mixed breed. Here, we report the diagnosis and follow-up of mild dystrophin-deficient MD in a 5-month-old male Border Collie, associated with a novel DMD variant.

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Cerebrospinal fluid metabolomics is a promising research technology in the elucidation of nervous system disorders. Therefore, in this work, a cerebrospinal fluid (CSF) metabolomics method using liquid chromatography coupled to mass spectrometry was optimized and validated to cover a wide range of metabolites. An acceptable coefficient of variance regarding instrumental, within-lab and intra-assay precision was found for 95, 70 and 96 of 102 targeted metabolites, together with 1256, 676 and 976 untargeted compounds, respectively.

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Article Synopsis
  • - The study focuses on episodic mandibular tremor (EMT) in dogs, characterized by brief episodes of teeth chattering, and aims to detail clinical signs, MRI findings, and outcomes for affected dogs.
  • - Researchers analyzed data from 11 hospital dogs and 31 survey respondents and found that EMT episodes are usually rapid and can be triggered by excitement, mainly affecting the Cavalier King Charles Spaniel breed, with a median age of 3 years.
  • - The findings indicate that EMT may appear similar to movement disorders or pain, and a significant number of affected dogs had concurrent medical conditions, though no brain diseases were found in those further investigated.
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Background: KCNJ10 and CAPN1 variants cause "spinocerebellar" ataxia in dogs, but their association with generalized myokymia and neuromyotonia remains unclear.

Objective: To investigate the association between KCNJ10 and CAPN1 and myokymia or neuromyotonia, with or without concurrent spinocerebellar ataxia.

Animals: Thirty-three client-owned dogs with spinocerebellar ataxia, myokymia neuromytonia, or a combination of these signs.

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Background: Although idiopathic episodic head tremor (IEHT) in dogs is well-known, little is known about structural brain lesions causing structural episodic head tremor (SEHT).

Hypothesis/objectives: Describe semiology, magnetic resonance imaging (MRI) findings and outcome of dogs with IEHT or SEHT. We hypothesized that structural lesions affecting the middle cranial fossa or mesencephalic aqueduct could lead to SEHT.

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Article Synopsis
  • Some dogs experience serious seizures that need quick action from their owners to help save their lives.
  • A study asked dog owners about the emergency medications they gave their pets when they had seizures, and found that most used a medicine called diazepam.
  • Owners thought another medicine, intranasal midazolam, worked better and was easier to use than diazepam according to their experiences.
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Background: Since the introduction of next-generation sequencing (NGS) techniques, whole-exome sequencing (WES) and whole-genome sequencing (WGS) have not only revolutionized research, but also diagnostics. The gradual switch from single gene testing to WES and WGS required a different set of skills, given the amount and type of data generated, while the demand for standardization remained. However, most of the tools currently available are solely applicable for human analysis because they require access to specific databases and/or simply do not support other species.

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Hereditary ataxias are a large group of neurodegenerative diseases that have cerebellar or spinocerebellar dysfunction as core feature, occurring as an isolated sign or as part of a syndrome. Based on neuropathology, this group of diseases has so far been classified into cerebellar cortical degenerations, spinocerebellar degenerations, cerebellar ataxias without substantial neurodegeneration, canine multiple system degeneration, and episodic ataxia. Several new hereditary ataxia syndromes are described, but most of these diseases have similar clinical signs and unspecific diagnostic findings, wherefore achieving a definitive diagnosis in these dogs is challenging.

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Background: To our knowledge, this is the first description of long-term nutritional management in a dog with paroxysmal dyskinesia.

Case Summary: An obese 9-year-old, male entire, German Spitz was presented for dietary management after being diagnosed with calcium oxalate urolithiasis and suspected pancreatitis. Since he was seven years old, the dog has had a history of neurological signs, which were thought to be epileptic seizures.

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(1) Idiopathic epilepsy (IE) is thought to have a genetic cause in several dog breeds. However, only two causal variants have been identified to date, and few risk loci are known. No genetic studies have been conducted on IE in the Dutch partridge dog (DPD), and little has been reported on the epileptic phenotype in this breed.

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Epilepsy is a challenging multifactorial disorder with a complex genetic background. Our current understanding of the pathophysiology and treatment of epilepsy has substantially increased due to animal model studies, including canine studies, but additional basic and clinical research is required. Drug-resistant epilepsy is an important problem in both dogs and humans, since seizure freedom is not achieved with the available antiseizure medications.

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Epilepsy in dogs is a common chronic and serious disorder and may have an impact on the quality of life of the owners as well as the dogs themselves. The aim of this pilot study was to investigate the QoL score of dogs suffering from idiopathic epilepsy and their owners and if possible, investigate whether a breed specific difference exists. Owners, either Dutch or Belgium, were asked to participate in a web based SurveyMonkey questionnaire.

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Recent work identified anti-GM2 and anti-GalNAc-GD1a IgG ganglioside antibodies as biomarkers in dogs clinically diagnosed with acute canine polyradiculoneuritis, in turn considered a canine equivalent of Guillain-Barré syndrome. This study aims to investigate the serum prevalence of similar antibodies in cats clinically diagnosed with immune-mediated polyneuropathies. The sera from 41 cats clinically diagnosed with immune-mediated polyneuropathies (IPN), 9 cats with other neurological or neuromuscular disorders (ONM) and 46 neurologically normal cats (CTRL) were examined for the presence of IgG antibodies against glycolipids GM1, GM2, GD1a, GD1b, GalNAc-GD1a, GA1, SGPG, LM1, galactocerebroside and sulphatide.

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A 9-month-old male entire Doberman Pinscher presented with acute onset of severe cervical hyperesthesia after a fall. Neurological examination revealed a normal gait with low head carriage and severe cervical hyperesthesia. A CT scan of the cervical vertebral column revealed the presence of a comminuted fracture at the dorsomedial aspect of the right occipital condyle and sclerosis of the underlying bone.

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(1) Feline dystrophin-deficient muscular dystrophy (ddMD) is a fatal disease characterized by progressive weakness and degeneration of skeletal muscles and is caused by variants in the DMD gene. To date, only two feline causal variants have been identified. This study reports two cases of male Maine coon siblings that presented with muscular hypertrophy, growth retardation, weight loss, and vomiting.

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In the last decade, nutrition has gained interest in the management of canine idiopathic epilepsy (IE) based on growing scientific evidence. Diets can serve their functions through many pathways. One potential pathway includes the microbiota-gut-brain axis, which highlights the relationship between the brain and the intestines.

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The anticonvulsant effect of cannabidiol (CBD), which has been confirmed by findings from animal models and human trials, has attracted the interest of veterinary practitioners and dog owners. Moreover, social media and public pressure has sparked a renewed awareness of cannabinoids, which have been used for epilepsy since ancient times. Unfortunately, at this moment veterinarians and veterinary neurologists have difficulty prescribing cannabinoids because of the paucity of sound scientific studies.

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We investigated two litters of distantly related Nova Scotia Duck Tolling Retrievers (NSDTR), of which four puppies were affected by cerebellar signs with or without neuromuscular weakness. The phenotype was termed cerebellar degeneration—myositis complex (CDMC). We suspected a heritable condition and initiated a genetic analysis.

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Modulation of neuronal activity for seizure control using various methods of neurostimulation is a rapidly developing field in epileptology, especially in treatment of refractory epilepsy. Promising results in human clinical practice, such as diminished seizure burden, reduced incidence of sudden unexplained death in epilepsy, and improved quality of life has brought neurostimulation into the focus of veterinary medicine as a therapeutic option. This article provides a comprehensive review of available neurostimulation methods for seizure management in drug-resistant epilepsy in canine patients.

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The therapeutic potential of cannabidiol (CBD), a non-psychtropic component of the plant, is substantiated more and more. We aimed to determine the pharmacokinetic behavior of CBD after a single dose intranasal (IN) and intrarectal (IR) administration in six healthy Beagle dogs age 3-8 years old, and compare to the oral administration route (PO). Standardized dosages applied for IN, IR and PO were 20, 100, and 100 mg, respectively.

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The prevalence of idiopathic epilepsy (IE) within the Border Collie (BC) dog breed is high. The aim of this retrospective study was to describe the phenotype of BCs with IE and assess correlations between phenotypic variables and owner-provided quality-of-life (QoL) scores. Data of BCs diagnosed with IE during the period of five consecutive years were retrospectively analyzed.

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Status epilepticus (SE) can be effectively resolved if diagnosis and treatment are addressed at an early stage, although this is not always possible in clinical practice. If untreated, continuous seizure activity leads to refractory SE which does not respond to antiseizure medication. Although refractory SE is a life-threatening emergency, there is a lack of veterinary consensus on its appropriate management.

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Background: Orthostatic tremor (OT) is a rare movement disorder characterized by high-frequency (>12 Hz) involuntary, rhythmic, sinusoidal movements affecting predominantly the limbs while standing.

Objective: To describe the signalment, presenting complaints, phenotype, diagnostic findings, treatment, and outcome of a large sample of dogs with OT.

Animals: Sixty dogs diagnosed with OT based on conscious electromyography.

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