Whole exome sequencing identifies novel variants underlying Ataxia with Oculomotor Apraxia type 1 in Pakistani consanguineous families
Objective: To investigate the underlying pathogenic variants in four consanguineous Pakistani families segregating Ataxia with Oculomotor Apraxia type 1 Background: Ataxia with Oculomotor Apraxia type 1…Giant symptomatic capillary telangiectasia: uncommon cause of cerebellar ataxia
Objective: We present a case of a patient with adult-onset cerebellar ataxia and palatal tremor secondary to an uncommon vascular cause. Background: Capillary telangiectasias (CT)…Leading Therapeutic Molecules Target Transcription Factors Binding to Repressor Region in FXN Gene
Objective: To investigate interactions of transcription factors (TFs) binding to repressor region located upstream to FXN gene with leading therapeutic molecules. Background: Low levels of…Tullio phenomenon in CANVAS Syndrome
Objective: To describe Tullio phenomenon in a patient with CANVAS (cerebellar ataxia with neuropathy and vestibular areflexia syndrome). Background: CANVAS is a progressive ataxia syndrome…Two Different Clinical Presentations in SYNE1 Ataxia in Turkey
Objective: SYNE1 (Spectrin repeat-containing nuclear envelope protein 1) gene mutation, first diagnosed in French Canadians in 2007, is now reported from many regions around the…Clinical and Genetic spectrum of a series of congenital ataxias patients.
Objective: To describe the clinical and molecular findings of a well-defined group of 11 congenital ataxia patients from 12 different families assessed in an adult…Isolated ZIC4 antibody associated paraneoplastic cerebellar degeneration
Objective: Anti-ZIC4 antibodies have recently been associated with paraneoplastic cerebellar degeneration (PCD) and are usually associated with small cell carcinoma lung. However, most of the…Paraneoplastic Cerebellar Ataxia Due To Ovarian Teratoma: A Case Report
Objective: report the case of a young woman who presented with rapidly progressive ataxia caused by an ovarian teratoma Background: paraneoplastic cerebellar degeneration (PCD) is…A case of GAD ataxia and stiff leg syndrome
Objective: Stiff person syndrome and cerebellar ataxia are immunological neurological syndromes associated with the presence of glutamic acid decarboxylase (GAD) antibodies. Background: Patients with GAD…Clinical and imaging features of idiopathic cerebellar ataxia with anti-cerebellar antibodies
Objective: The current study sought to determine whether autoimmunity can account for some cases of IDCA. Background: Idiopathic cerebellar ataxia (IDCA) is the clinical-based term…
- « Previous Page
- 1
- …
- 5
- 6
- 7
- 8
- 9
- …
- 12
- Next Page »