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Early-Onset Parkinsonism Cerebral Malformations Erythrocyte Plasmalogen Decreased Plasma Phytanic Acid Normal No Alkyl-DHAP Synthase Activity Severely Shortened Femora Severely Shortened Humeri Small Simple Ears Increased Male-to-Female Ratio (>7:1) Rapidly Progressive Course Splitting of the Intima and/or Internal Elastic Membrane Severe Hyalinosis Fibrous Intimal Proliferation in Small Cerebral Arteries Arteriosclerotic Changes in Small Cerebral Arteries Preservation of U Fibers Subcortical Focal Lacunae Diffuse White Matter Abnormalities Allelic Disorder to Northern Epilepsy Most Patients Lose Ambulation 2 Years after Onset Onset Age 2 to 7 Years Mutations in the CLN8 Gene Intracellular Fingerprint Profiles on Ultrastructural Analysis See SPG5A Mildly Short Hands Varus or Valgus Knee Deformity Flattened, Irregular Epiphyses Onset of Hearing Loss in Late Childhood Asymptomatic - Easy Bruisability, Postoperative Hemorrhage Variable Bleeding Episodes Normal to Prolonged Bleeding Time No Kidney Disease Genetic Anticipation Has Been Observed Onset in Fourth and Fifth Decades Sural Nerve Sensory Responses Absent or Reduced Maternal Anticipation Bias Patients Retain Ambulation Even after Long Disease Course Pyramidal Tract Dysfunction Mild Facial Myokymia Stance Ataxia Mean Age at Onset: 45 Years Mutation in the PSEN1 Gene Mutation in the MAPT Gene Ubiquitin Positive Inclusions Tau-Positive Inclusions May Be Found Motor Symptoms May be Present Decrease in Abstract Thinking Slow Progression without Marked Disability Cardiomyopathy Is Not a Feature Replacement of Affected Muscle Tissue with Fatty Tissue Ankle Dorsiflexion Reduced Atrophy of the Muscles in the Anterior Compartment of the Lower Leg Weakness of the Muscles in the Anterior Compartment of the Lower Leg Interfamilial and Intrafamilial Clinical Heterogeneity Nerve Biopsy Often Consistent with Axonal Neuropathy Spasticity May Be Present Slow, Paraparetic Gait Mean Age at Onset 16.5 Years Postural Tremor - Upper Limb - Onset in Fourth Decade Weakness of Hip and Ankle Flexion Flat Irregular Acetabular Margins Squared Iliac Bones Coronal Vertebral Clefts (T11-S2) Abnormal Dental Cusp Morphology Overfolded Rumpled Ears Length <5th Percentile PAVM More Frequent in HHT1 than HHT2 Definite Diagnosis if 3/4 Criteria Present A Subset of Patients Develop Pulmonary Arterial Hypertension Nail Bed Telangiectasia Telangiectasis in Stomach, Duodenum, Small Bowel and Colon Associated with Deletion at 2q37 Alpha-Subunit of Gs Normal Mitochondrial Paracrystalline Inclusion Bodies Electron Microscopy Shows Iron-Loaded Mitochondria Ringed Sideroblasts on Peripheral Smear and Bone Marrow High Philtrum Reduced Penetrance (ca. 54%) Age at Onset from 3 to 51 Years Other Auras May Occur Focal Seizures with Frontal Lobe Origin Possibly Aura Mouth Movements Tonic Head Extension Arm Flexion Easily Frustrated Incomprehensible Speech Speech Limited to Single Word or No Words Verbal Comprehension Limited Onset 70-90 Years Amyloid Deposits in Corneal Stroma Thick Ropy Lattice Lines in the Corneal Stroma Mutation in the ALG1 Gene Abnormal Isoelectric Focusing of Serum Transferrin (Type I Pattern) Recurrent Refractory Seizures Clinodactyly - 4th and 5th Fingers Joint Laxity (Shoulder, Wrist, Finger, Hip, Knee) Flat Facies Mutation in the Enamelin Gene See also Autosomal Dominant Sick Sinus Syndrome - 163800 Allelic Disorder Is Brugada Syndrome