eMedicine Specialties > Physical Medicine and Rehabilitation > Disorders of the Motor Unit

Hereditary Spastic Paraplegia: Multimedia

Author: Nam-Jong Paik, MD, PhD, Chief, Associate Professor of Rehabilitation Medicine, Rehabilitation Medicine, Seoul National University Bundang Hospital
Coauthor(s): Jae-Young Lim, MD, Assistant Professor, Department of Rehabilitation Medicine, Division of Musculoskeletal Rehabilitation, Bundang Hospital, Seoul National University College of Medicine
Contributor Information and Disclosures

Updated: Jul 29, 2008

Multimedia

Photograph of a 16-year-old girl with complicated...Media file 1: Photograph of a 16-year-old girl with complicated hereditary spastic paraplegia. She has a spastic gait disturbance, mental retardation, and extrapyramidal symptoms. Note the dysmorphic features.
Photograph of a 16-year-old girl with complicated...

Photograph of a 16-year-old girl with complicated hereditary spastic paraplegia. She has a spastic gait disturbance, mental retardation, and extrapyramidal symptoms. Note the dysmorphic features.

Dysmorphic appearance of a 16-year-old girl with ...Media file 2: Dysmorphic appearance of a 16-year-old girl with complicated hereditary spastic paraplegia. This patient displays a short stature (145 cm) and hair loss. Anterior (left), lateral (middle), and posterior (right) views are shown.
Dysmorphic appearance of a 16-year-old girl with ...

Dysmorphic appearance of a 16-year-old girl with complicated hereditary spastic paraplegia. This patient displays a short stature (145 cm) and hair loss. Anterior (left), lateral (middle), and posterior (right) views are shown.

General appearance of sisters with complicated he...Media file 3: General appearance of sisters with complicated hereditary spastic paraplegia. They are aged 16 and 17 years. Physical examination revealed increased deep tendon reflexes in all 4 extremities, with an extensor plantar reflex. Sensory losses in the patients have affected mainly their joint positions and vibration sensations.
General appearance of sisters with complicated he...

General appearance of sisters with complicated hereditary spastic paraplegia. They are aged 16 and 17 years. Physical examination revealed increased deep tendon reflexes in all 4 extremities, with an extensor plantar reflex. Sensory losses in the patients have affected mainly their joint positions and vibration sensations.

More on Hereditary Spastic Paraplegia

Overview: Hereditary Spastic Paraplegia
Differential Diagnoses & Workup: Hereditary Spastic Paraplegia
Treatment & Medication: Hereditary Spastic Paraplegia
Follow-up: Hereditary Spastic Paraplegia
Multimedia: Hereditary Spastic Paraplegia
References

References

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  2. Reid E. Pure hereditary spastic paraplegia. J Med Genet. Jun 1997;34(6):499-503. [Medline][Full Text].

  3. Appleton RE, Farrell K, Dunn HG. 'Pure' and 'complicated' forms of hereditary spastic paraplegia presenting in childhood. Dev Med Child Neurol. Apr 1991;33(4):304-12. [Medline].

  4. Fink JK. Advances in the hereditary spastic paraplegias. Exp Neurol. Nov 2003;184 Suppl 1:S106-10. [Medline].

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  7. Paisan-Ruiz C, Dogu O, Yilmaz A, et al. SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology. Apr 15 2008;70(16 Pt 2):1384-9. [Medline].

  8. Hazan J, Fonknechten N, Mavel D, et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet. Nov 1999;23(3):296-303. [Medline].

  9. Depienne C, Stevanin G, Brice A, et al. Hereditary spastic paraplegias: an update. Curr Opin Neurol. Dec 2007;20(6):674-80. [Medline].

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  11. Orlacchio A, Patrono C, Gaudiello F, et al. Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. Neurology. May 20 2008;70(21):1959-66. [Medline].

  12. Tzoulis C, Denora PS, Santorelli FM, et al. Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. J Neurol. Jun 23 2008;[Medline].

  13. Fink JK, Heiman-Patterson T, Bird T, et al. Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working Group. Neurology. Jun 1996;46(6):1507-14. [Medline].

  14. Hazan J, Lamy C, Melki J, et al. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet. Oct 1993;5(2):163-7. [Medline].

  15. Schady W, Smith CM. Sensory neuropathy in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry. Jun 1994;57(6):693-8. [Medline][Full Text].

  16. Schady W, Dick JP, Sheard A, et al. Central motor conduction studies in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry. Sep 1991;54(9):775-9. [Medline][Full Text].

  17. Claus D, Waddy HM, Harding AE, et al. Hereditary motor and sensory neuropathies and hereditary spastic paraplegia: a magnetic stimulation study. Ann Neurol. Jul 1990;28(1):43-9. [Medline].

Further Reading

Keywords

hereditary spastic paraplegia, HSP, hereditary spastic paraparesis, familial spastic paraparesis, Strumpell-Lorrain syndrome, Strumpell-Lorrain disease, Strümpell-Lorrain syndrome, Strümpell-Lorrain disease, pure hereditary spastic paraplegia, uncomplicated hereditary spastic paraplegia, complicated hereditary spastic paraplegia

Contributor Information and Disclosures

Author

Nam-Jong Paik, MD, PhD, Chief, Associate Professor of Rehabilitation Medicine, Rehabilitation Medicine, Seoul National University Bundang Hospital
Nam-Jong Paik, MD, PhD is a member of the following medical societies: American Association of Neuromuscular and Electrodiagnostic Medicine
Disclosure: Nothing to disclose.

Coauthor(s)

Jae-Young Lim, MD, Assistant Professor, Department of Rehabilitation Medicine, Division of Musculoskeletal Rehabilitation, Bundang Hospital, Seoul National University College of Medicine
Jae-Young Lim, MD is a member of the following medical societies: American Association of Neuromuscular and Electrodiagnostic Medicine
Disclosure: Nothing to disclose.

Medical Editor

Teresa L Massagli, MD, Residency Director, Professor, Department of Rehabilitation Medicine and Pediatrics, University of Washington School of Medicine
Teresa L Massagli, MD is a member of the following medical societies: American Academy of Pediatrics, American Academy of Physical Medicine and Rehabilitation, and Association of Academic Physiatrists
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Kat Kolaski, MD, Assistant Professor, Departments of Orthopedic Surgery and Pediatrics, Wake Forest University School of Medicine
Kat Kolaski, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine and American Academy of Physical Medicine and Rehabilitation
Disclosure: Nothing to disclose.

CME Editor

Kelly L Allen, MD, Consulting Staff, Department of Physical Medicine and Rehabilitation, Lourdes Regional Rehabilitation Center, Our Lady of Lourdes Medical Center
Disclosure: Nothing to disclose.

Chief Editor

Denise I Campagnolo, MD, MS, Director of Multiple Sclerosis Clinical Research and Staff Physiatrist, Barrow Neurology Clinics, St. Joseph's Hospital and Medical Center; Investigator for Barrow Neurology Clinics; Director, NARCOMS Project for Consort
Denise I Campagnolo, MD, MS is a member of the following medical societies: Alpha Omega Alpha, American Association of Neuromuscular and Electrodiagnostic Medicine, American Paraplegia Society, Association of Academic Physiatrists, and Consortium of Multiple Sclerosis Centers
Disclosure: Teva Neuroscience Honoraria Speaking and teaching; Serono-Pfizer Honoraria Speaking and teaching

 
 
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