Clinico-radiological and genetic profile of patients with Ataxia with Oculomotor apraxia type-2 (AOA2)- A case series from India
Objective: To delineate clinical, radiological and genetic profile of patients with ataxia with oculomotor apraxia type-2 (AOA2) in Indian cohort. Background: AOA2 is a relatively…SLC39A8-CDG with manganese deficiency in an adult individual: a case report
Objective: To report the case of an adult male with SLC39A8-CDG and evaluate the effects of manganese supplementation on clinical evolution of the patient. Background:…Prevalence of Heterozygous ATP7B Mutation in Patients with Movement Symptoms
Objective: The objective of our study is to elucidate the prevalence of heterozygous ATP7B mutation in patients with movement symptoms. We aim to determine whether…A Rare Case Of Young Onset Ataxia: Spinocerebellar Ataxia Type 40
Objective: Spinocerebellar ataxias a heterogeneous group autosomal dominant neurodegenerative diseases with the main clinical feature of ataxia. Among various types, spinocerebellar ataxia type 40 (SCA40)…A Unique case of Ataxia, Neuropathy, and chronic cough: CANVAS
Objective: We describe a unique case of a 68-year-old man with chronic ataxia, spasmodic cough, neuropathy and hearing loss who was initially felt to have…Autosomal recessive spastic ataxia of Charlevoix–Saguenay: Case report with 3 family members affected.
Objective: Report a case of ARSACS in a patient with 2 siblings also affected Background: Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare…Diagnostic challenges with novel SCA variants: A case of STUB1 mutation
Objective: We present a case of SCA48 found on multi-gene sequencing panel [MGSP] after negative dementia workup. Background: Spinocerebellar ataxia [SCA] is a genotypically &…Dopa-responsive ataxia with compound heterozygous variants in MRE11
Objective: To evaluate the role for levodopa in patients with ataxia telangiectasia like disorder (ATLD) who have a compound heterozygous mutation in MRE11. Background: Early-onset…Autosomal recessive cerebellar ataxias: a Tunisian cohort of 168 patients
Objective: The aim of our study is to describe epidemiological, clinical and paraclinical features of the different autosomal recessive cerebellar ataxias (ARCA) identified in our…Spastic Ataxia Associated with Congenital Myasthenia Related to the VAMP1 Gene: Report of an Affected Family in Brazil.
Objective: To describe a family with both congenital myasthenia and spastic ataxia Background: The vesicle-associated membrane protein - VAMP1 is associated with synaptic activation in…
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