Format

Send to:

Choose Destination

Spastic paraplegia 17(SPG17)

MedGen UID:
442302
Concept ID:
CN074197
Disease or Syndrome
Synonyms: Autosomal dominant spastic paraplegia type 17; BSCL2-Related Neurologic Disorders/Seipinopathy; Silver spastic paraplegia syndrome; Silver Syndrome; Spastic paraplegia with amyotrophy of hands and feet; SPG17
 
Gene (location): BSCL2 (11q12.3)
OMIM®: 270685

Disease characteristics

The spectrum of BSCL2-related neurologic disorders includes Silver syndrome and variants of Charcot-Marie-Tooth disease type 2, distal hereditary motor neuropathy (dHMN) type V, and spastic paraplegia 17. Features of these disorders include onset of symptoms ranging from the first to the seventh decade, slow disease progression, upper motor neuron involvement (gait disturbance with pyramidal signs ranging from mild to severe spasticity with hyperreflexia in the lower limbs and variable extensor plantar responses), lower motor neuron involvement (amyotrophy of the peroneal muscles and small muscles of the hand), abnormal vibration sense, and pes cavus and other foot deformities. Disease severity is variable among and within families. [from GeneReviews]
Authors:
Daisuke Ito   view full author information

Additional description

From GHR
Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. Both types involve the lower limbs; the complex types may also involve the upper limbs, although to a lesser degree. In addition, the complex types may affect the brain and parts of the nervous system involved in muscle movement and sensations. Silver syndrome is a complex hereditary spastic paraplegia.The first sign of Silver syndrome is usually weakness in the muscles of the hands. These muscles waste away (amyotrophy), resulting in abnormal positioning of the thumbs and difficulty using the fingers and hands for tasks such as handwriting. People with Silver syndrome often have high-arched feet (pes cavus) and spasticity in the legs. The signs and symptoms of Silver syndrome typically begin in late childhood but can start anytime from early childhood to late adulthood. The muscle problems associated with Silver syndrome slowly worsen with age, but affected individuals can remain active throughout life.  https://ghr.nlm.nih.gov/condition/silver-syndrome

Recent clinical studies

Etiology

Musacchio T, Zaum AK, Üçeyler N, Sommer C, Pfeifroth N, Reiners K, Kunstmann E, Volkmann J, Rost S, Klebe S
J Neurol 2017 Jan;264(1):11-20. Epub 2016 Oct 13 doi: 10.1007/s00415-016-8301-2. PMID: 27738760
Cen Z, Lu X, Wang Z, Ouyang Z, Xie F, Luo W
J Clin Neurosci 2015 Feb;22(2):429-30. Epub 2014 Dec 5 doi: 10.1016/j.jocn.2014.08.010. PMID: 25487175

Diagnosis

Musacchio T, Zaum AK, Üçeyler N, Sommer C, Pfeifroth N, Reiners K, Kunstmann E, Volkmann J, Rost S, Klebe S
J Neurol 2017 Jan;264(1):11-20. Epub 2016 Oct 13 doi: 10.1007/s00415-016-8301-2. PMID: 27738760
Poon M, Nguyen TP
Neurology 2016 Mar 29;86(13):e140-3. doi: 10.1212/WNL.0000000000002519. PMID: 27022180
Panas M, Karadima G, Kalfakis N, Vassilopoulos D
Neurologist 2011 Jul;17(4):211-2. doi: 10.1097/NRL.0b013e3182173567. PMID: 21712667

Prognosis

Musacchio T, Zaum AK, Üçeyler N, Sommer C, Pfeifroth N, Reiners K, Kunstmann E, Volkmann J, Rost S, Klebe S
J Neurol 2017 Jan;264(1):11-20. Epub 2016 Oct 13 doi: 10.1007/s00415-016-8301-2. PMID: 27738760

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center