Hereditary sensory and autonomic neuropathy type 1

Slides:



Advertisements
Similar presentations
Case Study 7 Craig Horbinski, M.D, Ph.D.. History 63-year-old male with generalized progressive weakness especially in his lower extremities with difficulty.
Advertisements

Morphology of valve allografts (homografts) valve and pulmonary valve autografts. (A) Gross photograph of pulmonary valve allograft removed following 7.
Schematic drawing of a Nissl-stained motor neuron
Hereditary sensory ataxic neuropathy associated with proximal muscle weakness in the lower extremities  Tatsufumi Murakami, Yuta Fukai, Mitsue Rikimaru,
(Adapted, with permission, from Fagin JA
(Reproduced, with permission, from Findling JW, et al
Pathogenesis of bone diseases in chronic kidney disease
Nine patterns of inflammatory skin disease. (See also Table 8–1.)
Algorithm for the management of aortic valve stenosis
A section of the cerebellum stained with Sevier-Munger preparation from the brain of a 10-year-old SCA1 patient with 82 CAG repeats who died after 6 years.
Radiographs of the right femur in a patient with juvenile Paget disease before (left) and after (right) 10 months of treatment with calcitonin. Note the.
Sectional View of Heart
Ulcerative colitis. Note the continuous segment of mucosal erythema extending from the distal aspect of the specimen (right of image). This pattern of.
In diastolic dysfunction, the diastolic pressure-volume relationship is shifted upward and to the left (dashed line), which leads to an elevated left ventricular.
Clinical factors increasing index of suspicion for tuberculosis
Midsagittal section through the brain of a patient with a brain stem tumor. Histologic findings showed the tumor to be an ependymoma. Source: Discussion.
Proteins involved in muscular dystrophies
Chronic acquired demyelinating polyneuropathies
(Adapted from Beck F, Christ B, Kriz W, et al: Advances in Anatomy Embryology and Cell Biology. © 2003 Springer-Verlag Berlin Heidelberg; with permission.)
Hereditary sensory and autonomic neuropathy type 2
CT myelogram demonstrates severe spinal stenosis at L3-L4 along with bilateral facet arthropathy (black arrows). Source: Chapter 4. Disorders, Diseases,
EKG changes in hypokalemia
Bieri Faces Pain Scale, revised
Diagnostic approach to patients with a limb-girdle pattern of weakness and suspected muscular dystrophy with an autosomal recessive inheritance pattern.
Pathophysiological alterations leading to neuronal injury during bacterial meningitis. BBB, blood-brain barrier; CBV, cerebral blood volume. (Redrawn,
(Used, with permission, of Dr Thomas Cremer, Department of Biology II, Anthropology and Human Genetics, Ludwig Maximilian University, Munich, Germany.)
Blastomyces dermatitidis
Assembly and placement of the microdrive on the arc of Leksell stereotaxic frame with a canula entering the burrhole. Source: Chapter 17. Stereotaxic Surgery.
Pedal venous pressure measurements with exercise
Anesthetic technique for the popliteal block
Orofacial dyskinesia in a patient with Huntington's disease
Kaplan-Meier survival for adult heart transplants performed between January 1982 and June 2006 by era. All comparisons are significant at p < (Reproduced.
Cocaine and hydroxyamphetamine testing in Horner’s syndrome
(Reproduced with permission from Amato AA, Russell JA
Prostate cancer mortality as a factor of Gleason score and age at diagnosis in men managed conservatively. (Adapted, with permission, from Albertsen PC.
(Reproduced, with permission, from Emiliano Chavira, MD.)
(A) The coral snake can be identified by the yellow and red bands that touch while red and black bands do not. The coral snake is a member of the Elapidae.
Hairy cell leukemia. (Bone marrow core biopsy, 50 ×
Sciatic nerve at the level of popliteal fossa. Hematoxylin-eosin
Note: A multivariate analysis suggests that a model that adds clinical and demographic information may perform better than the nomogram alone. (See O'Neill.
(Modified from Conlin PR, et al
Adapted with permission from Hsia, J et al
Model for the histological and genetic progression from normal cells (far left) through pancreatic intraepithelial neoplasia (PanIN) lesions (center),
(Copyright © 1977 American Diabetes Association. Marliss EB et al
Role of cobalamin (vitamin B12) and folic acid in nucleic acid and myelin metabolism. Lack of either cobalamin or folic acid retards DNA synthesis (A)
C. A peripheral nerve fiber is myelinated by a Schwann cell in several stages. In stage 1 the Schwann cell surrounds the axon. In stage 2 the outer aspects.
The anatomical results of patients classified as having a low, intermediate, or high probability of developing three-vessel or left main coronary artery.
[From: Galli : et al: Emergency Orthopedics: The Spine
Follicular cysts. (A) Clinical presentation of follicular cysts
(Reproduced, with permission, from Fulop M, et al
Propafenone-Induced Peripheral Neuropathy
Nicholas J. Silvestri, M.D.
Pathological alterations in idiopathic pulmonary fibrosis (IPF).
P. James B. Dyck, MD, Jennifer A. Tracy, MD  Mayo Clinic Proceedings 
Figure Sural nerve electron microscopy
Figure Clinical course of acute neuritis and NMDA receptor (NMDAR) encephalitis, sural nerve biopsy, and detection of NMDAR antibodies(A) Approximately.
Nat. Rev. Neurol. doi: /nrneurol
(A) Confocal image of a skin biopsy taken from the finger of a healthy subject illustrating different subtypes of sensory fibre: PGP 9.5 is used as an.
Diseases Involving Myelin
The Complexity of Elastic Fiber Biogenesis: The Paradigm of Cutis Laxa
(A) Confocal image of a skin biopsy taken from the finger of a healthy subject illustrating different subtypes of sensory fibre: PGP 9.5 is used as an.
Figure 2 Analysis of muscle and nerve histopathology and muscle mtDNA deletions (A) Representative muscle biopsy shows a cytochrome c oxidase (COX)-negative.
Figure 2 Histopathological features in CIDP
Suggested algorithm for genetic testing in Charcot–Marie–Tooth disease (CMT) and related disorders in the age of disease-specific gene panels. *Motor nerve.
Figure ND5 and MCARNE phenotype
Genetic diagnoses in Charcot–Marie–Tooth disease (CMT) and related disorders in patients attending a specialist CMT clinic in the UK (inherited neuropathy.
Inflammation,M. leprae infiltration and demyelination in infected armadillo PT nerve. Inflammation,M. leprae infiltration and demyelination in infected.
Serial biopsy samples taken from the patient in figs 1and 2, showing from left to right: acute myocarditis, healing myocarditis, dilated cardiomyopathy.
Figure 3 Bilateral optic atrophy and sural nerve biopsy of patient AII-2 Bilateral optic atrophy and sural nerve biopsy of patient AII-2 (A) Red-free photographs.
At 1 month, control and les rats were fed AL or fasted every other day for IF. Representative images of 1 μm sections, with electron micrograph insets.
Presentation transcript:

Hereditary sensory and autonomic neuropathy type 1 Hereditary sensory and autonomic neuropathy type 1. A 1-μm stained resin section (A) and electron micrograph (B) of a sural nerve biopsy. The single myelinated fiber in (A) (arrow) is visible at the top of (B); many more unmyelinated axons (arrows) remain than myelinated axons. Scale bar = 10 μm (A) and 5 μm (B). A 1-μm stained resin section (C) and teased fiber preparation of the sural nerve biopsy from another patient with HSNA1 (D and E). There are around 50 myelinated fibers in the whole biopsy. At least two of them appear to have internodes that seem to be demyelinating in a segmental pattern (between arrows D and E). Scale bar = 10 μm (C) and 20 μm (D and E). (Reproduced with permission from Houlden H, King R, Blake J, et al. Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). Brain. 2006;129(Pt 2):411–425.) Source: Charcot–Marie–Tooth Disease and Related Disorders, Neuromuscular Disorders, 2e Citation: Amato AA, Russell JA. Neuromuscular Disorders, 2e; 2015 Available at: https://neurology.mhmedical.com/DownloadImage.aspx?image=/data/books/1561/ama_ch11_f010a-e.png&sec=96693242&BookID=1561&ChapterSecID=96693028&imagename= Accessed: November 02, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved